NGS Panel Plus. Sequencing Sequencing + NGS based CNVs Del/Dup with MLPA. Clinic. Department. Street. ZIP Code/Town. Country. . Billing.

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1 Promo Code (if applicable) Genetic Diagnostics (s)/gene(s)/panel(s): Analysis Requested Single Gene Sequencing Sequencing (Sanger) Sequencing (NGS) Sequencing + CNVs (with NGS) Del/Dup (MLPA or qpcr) Carrier ing Gene name Mutation NGS Panel Sequencing Sequencing + NGS based CNVs Del/Dup with MLPA NGS Panel Plus Relative tested at CENTOGENE yes no If yes, CENTOGENE ID Sequencing Sequencing + NGS based CNVs Del/Dup with MLPA Relationship to patient Additional Options Hotspot ing Somatic Mutation Analysis CentoArrayCyto HD CentoArrayCyto 750K Prenatal Diagnosis Maternal Cell Contamination (Prenatal) STAT (Rush fee for non-prenatal samples at additional cost) Patient Information Last Name Physician or Laboratory (Reporting Address) Name of Physician First Name Date of Birth M M D D Y Y Y Y Clinic Department Sex Male Female Street ZIP Code/Town Country Street ZIP Code/Town Country Phone Fax Your Reference Number Sample Collection Date Additional Report Recipient M M D D Y Y Y Y Name of Physician Clinic Department Street ZIP Code/Town Country Phone Fax For Somatic Mutation Analysis Only Year of Tissue Fixation Type of Fixation Tumor Grading Stage Tissue of Origin I herewith confirm the correctness of the above given information. Place, Date Signature of Patient/Guardian Please note that all diagnostic reports are exclusively available via our online CentoPortal Additional report recipient(s) can be conveniently added for individual requests via the portal. Billing CENTOGENE Quotation No. Invoice to Patient Clinic/Insurance Please attach Authorization/Referral Name Department Street ZIP Code/Town Country VAT No. Phone In Case of Direct Billing to the Patient I authorize the physician to request this analysis/these analyses and I am informed about the resulting costs (and possibly applicable German 19% VAT). I herewith undertake to be liable for the payment of any invoice related to this diagnostics and I declare that the address given above is the correct billing address. Place, Date Signature of Patient/Guardian Fax Material Requirements For detailed material requirements, please refer to page 100 and page 101 for specific material requirements. We need mandatorily the following pages from you: 1-6. Page 1 The Terms & Conditions of CENTOGENE AG, which are available on apply to your order. Your specific order will be invoiced at the specific prices as listed on at the time of receipt of your order. CLIA #99D ACCREDITED

2 Information part of consent form for conducting genetic analyses CENTOGENE requires a signed consent form from the patient in order to be legally able to conduct a genetic analysis. Please ensure that this signed consent form accompanies the sample(s). Dear patient, Your physician has recommended a genetic analysis for you (or a person in your legal custody) to clarify the diagnosis/symptoms stated in the section declaration of consent below. In order to ensure that you have understood the purpose and significance of a genetic analysis, we have provided information about the testing process and potential results below. The purpose of a genetic analysis is to identify the cause of a suspected disease in you or your family by analyzing your genetic material (DNA) for an abnormal change (variant) that could explain the disease you or members of your family are experiencing. In a genetic analysis, depending on the case, you can be tested for: A single gene/variant responsible for a specific, suspected genetic disease, or Multiple genes (gene panels, whole exome or genome sequencing) in parallel. The study material that is needed to perform the genetic analysis is stated in the test order form and is typically blood or purified DNA, but may also be tissue, saliva or buccal swab. Possible results from the genetic analysis: A genetic analysis can have one of several outcomes: A disease-causing DNA variant is identified confirming the diagnosis and allowing appropriate medical management by your physician (if such is available). A DNA variant is identified but at this time, there is not enough scientific and medical information to determine if this is a disease-causing variant or not. Your physician will discuss such a result with you and explain what further options are available to you. The genetic analysis results in no specific finding that can explain the symptoms. This can be due to the current limitations in scientific or medical knowledge and technology. It is important to understand that genetic analyses even if the result of a specific analysis is negative - are not exhaustive and that it is therefore not possible to exclude risks for all possible genetic diseases for yourself and your family members (especially your children). It is possible that the knowledge of the test results may result in psychological stress for you and your family. It is always recommended to discuss the results with your responsible physician. Incidental findings: Genetic analyses, particularly those involving a large number of genes such as whole exome or genome sequencing, may identify results that are not directly related to the actual reason for your testing (incidental findings). However, such findings could still be of medical importance for you and your family, as they may provide information about a risk (that you may not be aware of) for potentially serious, unavoidable or non-treatable genetic diseases. As part of the optional sections of your consent declaration below, you can decide whether or not and under which circumstances you wish to be informed about such incidental findings. Family relationship findings: If several family members are tested, the correct interpretation of the results depends on the provided relationships between family members being accurate. If the genetic analysis reveals a possibility that there is a discrepancy in the provided relationships, CENTOGENE will not inform you, unless in exceptional cases where this information is absolutely necessary for the completion and correct medical interpretation of the requested analysis. Use of the health data, sample and test results: The sample and provided data including health data will be used for the requested analysis and along with the test results will be stored and processed in accordance with your consent declaration below. Right of withdrawal: You can withdraw your consent to the analysis with effect for the future at any time in full or in part without providing a reason. Pseudonymisation and Anonymisation: Pseudonymisation means the processing of your personal data in a way that the personal data can no longer be attributed to your person without a certain identifier, which is kept separately and protected only by CENTOGENE. Anonymisation refers to the process of rendering your data anonymous, which then does not allow your identification from the anonymous data at all anymore. Data protection information for patient and physician: In the following we want to inform you about the processing of personal data during and after the performance of the genetic analysis. "Personal data" is understood to mean all information which relates to an identified or identifiable natural person. To all such collected and processed personal data, the following applies: Controller and responsible entity for the processing of your personal data is CENTOGENE AG, Am Strande 7, Rostock, represented by the Executive Board members as can be found on our website ( about-centogene/team/executive-board.html). You can reach our data protection officer under the same address with the addition Attn: Data Protection Officer or by dataprivacy@centogene.com. Patient: By virtue of this consent form and through your physician, we collect the following data about you (in each case insofar as provided): personal details (including name and address), family relations, age/date of birth, gender, ethnicity, nationality, insurance information, symptoms and other medical information, disease, the study material / sample with identifiable genetic data, the genetic analysis results and findings. All your collected data will be stored for as long as indicated in the consent declaration. The data will be processed partially also in data centers operated by service providers under our control and instructions - for the performance of the genetic analysis requested and for informing your physician of the results of such analysis, in each case on the basis of the consent provided. In case you have consented accordingly, such data will also be stored and processed for those further purposes as specified in the consent declaration. Physician: All your collected data will be processed to communicate with you about the tests and the results, as well as for invoicing, for as long as we keep identifiable data about your patients. This takes place on the basis of legal provisions allowing to process personal data for the purpose of performing a contract and for customer relation management reasons because we have a respective legitimate interest. We use data processors, which have been carefully selected and are subject to our instructions and to regular monitoring. Disclosures to data processors may result in such data being processed in countries outside of the EU (third countries). For each such transmission of data to a third country it is safeguarded that either an adequate level of protection or reasonable guarantees exist; e.g. by concluding a data processing agreement containing EU standard data protection clauses (retrievable at: You (Patient and Physician) do have the following rights regarding personal data relating to you, which you can exercise at any time, e.g. through an to dataprivacy@centogene.com: -- Right to be provided with information about and to have access to the personal data stored on you; -- Right to have the personal data stored on you rectified or erased; -- Right to obtain restriction of processing your personal data; -- Right to object on grounds relating to your particular situation; -- Right to data-portability (i.e. receive personal data you provided to us in a structured, commonly used and machine-readable format); and -- Right to withdraw your consent with effect for the future at any time. You have the right to lodge a complaint with a supervisory authority regarding the processing of your personal data. You may have further or modified rights under applicable national law, which remain unaffected. For a more detailed and regularly updated information about how we process personal data please visit our Data Protection Statement under Right not to know: You have the right not to be informed about test results (right not to know) and to stop the testing processes that have been started at any time up to being given the results and to request the destruction of all analysis results. Page 2 1/2 V7eng_Information_July2018

3 Declaration of consent GENETIC ANALYSIS FOR DISEASE: (filled in by the physician) By signing this declaration of consent I acknowledge that I have received, read and understood the preceding written explanation about genetic analyses. I also received appropriate explanations (from my physician) regarding the genetic basis, the purpose, scope, type and significance of the planned genetic analysis and achievable results, possibilities of prevention/treatment of the possible disease as well as with regard to risks associated with collecting the sample required for the genetic analysis and the knowledge of the results of the genetic analysis. All my questions have been answered and I have had the necessary time to make an informed decision about the genetic analysis. With my signature below I give my consent or consent on behalf of the patient for whom I am the legal guardian: MANDATORY (1) to the genetic analysis by CENTOGENE AG, Am Strande 7, Rostock, Germany, (CENTOGENE) for the disease stated above, (2) to the collection and processing by my physician and CENTOGENE of my Personal (Health) Data (meaning in particular and in each case insofar as provided: personal details (including name and address), family relations, age/date of birth, gender, ethnicity, nationality, insurance information, symptoms and other medical information, disease, the study material/sample with identifiable genetic data, the genetic analysis results and findings) as far as required to conduct the genetic analysis including any necessary transfers of my Personal (Health) Data between physician and CENTOGENE across national borders, (3) to the analysis of the obtained sample and its storage for 10 years at CENTOGENE together with my patient file to be able to verify results of the analysis if need be, (4) to add to my patient file or to files of family members and to use for the above purposes if applicable Personal (Health) Data on me or members of my family insofar as they have consented, (5) to inform me or my physician or if CENTOGENE has been instructed by a laboratory acting on behalf of my physician such laboratory about the results of the genetic analysis; and (6) to provide upon request to me, my physician or as the case may be the requesting laboratory, the raw data of the genetic analysis. I am aware that I can withdraw my consent with effect for the future in full or in part at any time and that I have the right not to know the results of the genetic analyses as described in the preceding written explanation. By ticking the relevant YES/NO boxes below, I give my additional consent or consent on behalf of the patient for whom I am the legal guardian to: OPTIONAL Reporting of incidental findings Whole exome sequencing (WES) and whole genome sequencing (WGS) tests analyze numerous different genes at the same time. It is therefore possible that a genetic variant found in the genetic analysis is possibly not related to the cause for ordering the testing. These findings, known as incidental findings, can provide information unrelated to your reported clinical symptoms, but can be of medical value for your treatment in the future. I understand the significance of such incidental findings and consent to CENTOGENE reporting DNA variants of the specified classes or types in certain genes in accordance with the ACMG Recommendations for Reporting of Incidental Findings. I understand that CENTOGENE, using its own discretion, may refrain from reporting the recommended incidental findings or additionally also report (other) non-acmg recommended incidental findings, in each case because of additional scientific and medical information available in CENTOGENE s databases. Further storage and use of my Personal (Health) Data and the sample I understand that my Personal (Health) Data and (remaining) sample may help in further research, development and improvement of diagnostic methods and possibly therapeutic solutions. Such measures may in the future also enable and support medical advice and guidance to me and my family members, e.g. related to the diagnosis and treatment of a potential genetic disease. I agree that CENTOGENE stores (1) the Personal (Health) Data I provided and information on (affected) family members - if they consented - and the results of the genetic analysis and (2) my sample (including original and processed sample) for a period of 20 years and uses this data and the remaining samples for the purpose of internal research, improvement, development and validation of analysis procedures and related product and service developments. I agree that after a period of 20 years my Personal (Health) Data and (remaining) sample are anonymized and ownership in the sample is then transferred to CENTOGENE. Both will then remain in CENTOGENE s archives for use by CENTOGENE without restrictions. I agree that CENTOGENE may at any time process my anonymized or pseudonymized Personal (Health) Data, e.g. into its databases and datasets concerning genetic diseases, for the purpose of scientific and commercial research and to facilitate and contribute to the diagnosis of genetic changes and diseases of other patients. Access to such pseudonymised or anonymised data might be granted to external physicians, scientists and (pharmaceutical) companies for research and development purposes. I understand that I will not receive any compensation for the use of my Personal (Health) Data or sample by CENTOGENE. I understand that data in CENTOGENE s databases once anonymized - cannot be destroyed upon request as it is unidentifiable and untraceable. YES NO YES NO If the undersigning is the legal guardian of the Patient, he/she herewith to confirms to provide the above consent declarations not for himself/herself but on behalf of the respective patient. Date Name of Patient Signature of Patient /Legal Guardian I hereby confirm that the consent as shown above has been declared by the patient or (as the case may be) his/her parent or legal guardian and that I have his/her signature on file if it is not shown above. I confirm that the patient is capable of giving this consent (alternatively that the consent was given by a legal guardian of the patient), that all questions of the patient have been answered, that the patient had the necessary time to consider his/her decision and that the patient until now has not exercised his/her right not to know the results of the genetic analyses. I understand that the patient may request to have his/her genetic analyses results eliminated at any time and that I shall forward such requests to CENTOGENE without undue delay. I agree that my own personal data is stored in CENTOGENE s databases for organizational and invoicing purposes. Date Name of Physician Signature of Physician CENTOGENE AG Am Strande Rostock, Germany Page 3 Contact Details Phone: +49 (0) Fax: +49 (0) customer.support@centogene.com 2/2 V7eng_Consent_July2018

4 Table of Contents CLINICAL INFORMATION REQUEST Metabolic Diseases Neurological Diseases Ophthalmological Diseases Ear, Nose and Throat Diseases Bone, Skin and Immune Diseases Cardiological Diseases Vascular Diseases Liver, Kidney and Endocrinological Diseases Reproductive Genetics Haematological Diseases Malformation and/or Retardation Syndromes Oncogeneticsche Störungen Contact Details Customer Service Tel.: +49 (0) Fax: +49 (0) Please send the samples together with a completed request form to: CENTOGENE AG Am Strande Rostock, Germany Page 4

5 MANDATORY Please provide detailed clinical information Pedigree Patient name Age of manifestation Family history: Unaffected A. Consanguinity B. Affected siblings YES YES NO NO Clinical information Please tick the appropriate phenotype(s) A. NEUROLOGY 7.8 Stroke 2. Skin and integument 3. Endocrine 1. Behavioral abnormality 1.1 Autism B. METABOLISM 1. Abnormal creatine kinase 2.1 Abnormal hair 2.2 Abnormal nail 3.1 Diabetes mellitus 3.2 Hyperparathyroidism 1.2 Attention deficit disorder 2. Decreased plasma carnitine 2.3 Abnormal skin pigmentation 3.3 Hyperthyroidism 1.3 Psychiatric diseases 3. Hyperalaninemia 2.4 Hyperextensible skin 3.4 Hypoparathyroidism 2. Brain imaging 2.1 Abnormal cortical gyration 2.2 Abnormal myelination 4. Hypoglycemia 5. Increased CSF lactate 6. Increased serum pyruvate 2.5 Ichthyosis F. CARDIOVASCULAR 1. Angioedema 3.5 Hypothyroidism H. REPRODUCTION 1. Abnormal external genitalia 2.3 Agenesis of corpus callosum 7. Ketosis 2. Aortic dilatation 2. Abnormal internal genitalia 2.4 Brain atrophy 8. Lactic acidosis 3. Arrhythmia 3. Hypogonadism 2.5 Cerebellar hypoplasia 9. Organic aciduria 4. Atrial septal defect 4. Hypospadias 2.6 Heterotopia 2.7 Holoprosencephaly 2.8 Hydrocephalus C. EYE 1. Blepharospasm 2. Cataract 5. Coarctation of aorta 6. Dilated cardiomyopathy 7. Hypertension 5. Infertility I. ONCOLOGY 1. Adenomatous colonic polyposis 2.9 Leukodystrophy 3. Coloboma 8. Hypertrophic cardiomyopathy 2. Breast carcinoma 2.10 Lissencephaly 4. Glaucoma 9. Hypotension 3. Colorectal carcinoma 3. Developmental delay 5. Microphthalmos 10. Lymphedema 4. Leukemia 3.1 Delayed language dev. 6. Nystagmus 11. Malf. of heart and great vessels 5. Myelofibrosis 3.2 Delayed motor dev. 7. Ophthalmoplegia 12. Myocardial infarction 6. Neoplasm of the lung 3.3 Developmental regression 8. Optic atrophy 13. Stroke 7. Neoplasm of the skin 3.4 Intellectual disability 9. Ptosis 14. Tetralogy of Fallot 8. Paraganglioma 4. Movement abnormality 10. Retinitis pigmentosa 15. Vasculitis 9. Pheochromocytoma 4.1 Ataxia 4.2 Chorea 4.3 Dystonia 11. Retinoblastoma 12. Strabismus 13. Visual impairment 16. Ventricular septal defect G. GASTROINTESTINAL, GENITOURINARY, ENDOCRINE J. HEMATOLOGY AND IMMUNOLOGY 1. Abnormal hemoglobin 2. Abnormality of coagulation 4.4 Parkinsonism 5. Neuromuscular abnormality D. MOUTH, THROAT AND EAR 1. Abnormality of dental color 1. Gastrointestinal 1.1 Aganglionic megacolon 3. Anemia 4. Immunodeficiency 5.1 Hyperreflexia 2. Cleft lip / palate 1.2 Constipation 5. Neutropenia 5.2 Muscle hypertonia 3. Conductive hearing impair. 1.3 Diarrhea 6. Pancytopenia 5.3 Muscle hypotonia 4. External ear malformation 1.4 Gastroschisis 7. Splenomegaly 5.4 Spasticity 5. Hypodontia 1.5 Hepatic failure 8. Thrombocytopenia 6. Seizures 6.1 Febrile seizures 6.2 Focal seizures 6. Sensoneural hearing impair. E. SKIN, INTEGUMENT AND SKELETAL 1. Skeletal 1.6 Hepatomegaly 1.7 High hepatic transaminases 1.8 Obesity K. PRENATAL AND DEVELOPMENT 1. Abnormal facial shape 2. Failure to thrive 6.3 Generalized seizures 1.1 Abnormal limb morphology 1.9 Pyloric stenosis 3. Hemihypertrophy 7. Others 7.1 Craniosynostosis 7.2 Dementia 7.3 Encephalopathy 7.4 Headache 7.5 Macrocephaly 7.6 Microcephaly 7.7 Migraine 1.2 Abnormal vertebral column 1.3 Abnormality of the skeletal system 1.4 Joint hypermobility 1.5 Multiple joint contractures 1.6 Polydactyly 1.7 Scoliosis 1.8 Syndactyly 1.9 Talipes equinovarus 1.10 Vomiting 2. Genitourinary 2.1 Abnormal renal morphology 2.2 Abnormal urinary system 2.3 Hydronephrosis 2.4 Renal agenesis 2.5 Renal cyst 2.6 Renal tubular dysfunction 4. Hydrops fetalis 5. IUGR 6. Oligohydramnios 7. Overgrowth 8. Polyhydramnios 9. Premature birth 10. Short stature 11. Tall stature Page 5

6 Metabolic Diseases - Panels x Panel name Genes Brain iron accumulation syndromes panel CentoDx Solo CentoDx Trio CentoDx Trio Plus CentoLSD Enzyme Panel CentoLSD Enzyme Panel X-TRA CentoMPS Enzyme Panel CentoMPS Enzyme Panel X-TRA CentoNCL Enzyme Panel ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, SCP2, WDR45 Targets exonic regions of ~6700 genes associated with known clinical phenotypes Targets exonic regions of ~6700 genes associated with known clinical phenotypes Targets exonic regions of ~6700 genes associated with known clinical phenotypes Acid lipase (Wolman), Acidic alpha-glucosidase (Pompe), Acidic sphingomyelinase (Niemann-Pick Type A and Type B), Alphafucosidase (Alpha-fucosidase deficiency), Alpha-galactosidase (Fabry), Alpha-L-iduronidase (MPS I), Alpha-mannosidase (Alphamannosidase deficiency, ), Alpha-N-acetylgalactosaminidase (Schindler/Kanzaki), Arylsulfatase B (MPS VI), Beta-galactosidase (MPS IVB), Beta-glucocerebrosidase and Chitotriosidase (Gaucher), Beta-glucuronidase (MPS VII), Beta-hexosaminidase (Tay-Sachs), Beta-mannosidase (Beta-mannosidase deficiency), Hexosaminidase AB (Sandhoff), Iduronate-2-sulfatase (MPS II), N-acetyl-alpha-glucosaminidase (MPS IIIB), N-acetylgalatosamine-6-sulfate-sulfatase (MPS IVA), Palmitoyl-protein thioesterase (Neuronal ceroid lipofuscinosis type 1, NCL1, Infantile NCL, Santavuori-Haltia disease), Tripeptidyl peptidase (Neuronal ceroid lipofuscinosis type2, NCL2, Late infantile NCL, Jansky- Bielschowsky disease) Acid lipase (Wolman, LIPA), Acidic alphaglucosidase (Pompe, GAA), Acidic sphingomyelinase (Niemann-Pick Type A and Type B, SMPD1), Alpha-fucosidase (Alpha-fucosidase deficiency, FUCA1), Alpha-galactosidase (Fabry, GLA), Alpha-L-iduronidase (MPS I, IDUA), Alpha-mannosidase (Alpha-mannosidase deficiency, MAN2B1), Alpha-N-acetylgalactosaminidase (Schindler/Kanzaki, NAGA), Arylsulfatase B (MPS VI, ARSB), Beta-galactosidase (MPS IVB, GLB1), Beta-glucocerebrosidase and Chitotriosidase (Gaucher, GBA), Beta-glucuronidase (MPS VII, GUSB), Betahexosaminidase (Tay-Sachs, HEXA), Betamannosidase (Beta-mannosidase deficiency, MANBA), Hexosaminidase AB (Sandhoff, HEXA/HEXB), Iduronate-2-sulfatase (MPS II, IDS), N-acetyl-alpha-glucosaminidase (MPS IIIB, NAGLU), N-acetylgalatosamine-6-sulfate-sulfatase (MPS IVA, GALNS), Palmitoylprotein thioesterase (Neuronal ceroid lipofuscinosis type 1, NCL1, Infantile NCL, Santavuori-Haltia disease, PPT1), Tripeptidyl peptidase (Neuronal ceroid lipofuscinosis type2, NCL2, Late infantile NCL, Jansky- Bielschowsky disease, TPP1) Alpha-L-iduronidase (MPS I), Iduronate-2-sulfatase (MPS II), N-acetyl-alpha-glucosaminidase (MPS IIIB), N-acetylgalatosamine-6-sulfate-sulfatase (MPS IVA), Beta-galactosidase (MPS IVB), Arylsulfatase B (MPS VI), Betaglucuronidase (MPS VII), Alpha-mannosidase (Alpha-mannosidase deficiency) Alpha-L-iduronidase (Hurler disease, MPS I, IDUA), Iduronate-2-sulfatase (Hunter disease, MPS II, IDS), N-acetyl-alpha-glucosaminidase (Sanfilippo syndrome, MPS IIIb, NAGLU), N- acetylgalatosamine-6-sulfate-sulfatase (Morquio disease, MPS IVA, GALNS), Beta-galactosidase (Morquio disease, MPS IVB, GLB1), Arylsulfatase B (Maroteaux-Lamy syndrome, MPS VI, ARSB), Beta-glucuronidase (Sly syndrome, MPS VII, GUSB), Alpha-mannosidase (Alpha-mannosidase deficiency, MAN2B1) Palmitoyl-protein thioesterase (Neuronal ceroid lipofuscinosis type 1, NCL1, Infantile NCL, Santavuori-Haltia disease) Tripeptidyl peptidase (Neuronal ceroid lipofuscinosis type2, NCL2, Late infantile NCL, Jansky-Bielschowsky disease) Deletion / duplication testing (genes analyzed) PANK2, ATP13A2, PLA2G , 6, 7, 8, 9, , , Page 6 1-Hotspot ing 2-Carrier ing (point mutation) 3-Carrier ing (del/dup) 4-Full Gene Sequencing (Sanger)

7 x Panel name Genes CentoNCL Enzyme Panel X-TRA CentoSphingo Enzyme Panel CentoSphingo Enzyme Panel X-TRA Ceroid lipofuscinosis panel Congenital glycosylation disease panel Diabetes neonatal panel Diamond-Blackfan anemia panel Palmitoyl-protein thioesterase (Neuronal ceroid lipofuscinosis type 1, NCL1, Infantile NCL, Santavuori-Haltia disease, PPT1)Tripeptidyl peptidase (Neuronal ceroid lipofuscinosis type2, NCL2, Late infantile NCL, Jansky-Bielschowsky disease, TPP1) Acidic sphingomyelinase (Niemann-Pick Type A and Type B), Beta-glucocerebrosidase and Chitotriosidase (Gaucher), Alpha-galactosidase (Fabry), Acidic alpha-glucosidase (Pompe), Beta-hexosaminidase (Tay-Sachs), Hexosaminidase AB (Sandhoff), Alpha- N-acetylgalactosaminidase (Schindler/ Kanzaki), Acid lipase (Wolman), Alpha-mannosidase (Alpha-mannosidase deficiency), Beta-mannosidase (Beta-mannosidase deficiency), Alpha-fucosidase (Alpha-fucosidase deficiency) Acidic sphingomyelinase (Niemann-Pick Type A and Type B, SMPD1), Beta-glucocerebrosidase and Chitotriosidase (Gaucher, GBA), Alpha-galactosidase (Fabry, GLA), Acidic alpha-glucosidase (Pompe, GAA), Beta-hexosaminidase (Tay-Sachs, HEXA), Hexosaminidase AB (Sandhoff, HEXA/ HEXB), Alpha-N-acetylgalactosaminidase (Schindler/Kanzaki, NAGA), Acid lipase (Wolman, LIPA), Alpha-mannosidase (Alphamannosidase deficiency, MAN2B1), Betamannosidase (Beta-mannosidase deficiency, MANBA), Alpha-fucosidase (Alpha-fucosidase deficiency, FUCA1) ATP13A2, CLN3, CLN5, CLN6, CLN8, CTSD, CTSF, DNAJC5, GRN, KCTD7, MFSD8, PPT1, TPP1 ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, COG1, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPM1, DPM2, DPM3, GMPPA, GNE, LARGE, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PMM2, RFT1, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3 ABCC8, FOXP3, G6PC2, GCK, GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1 GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2 Deletion / duplication testing (genes analyzed) ATP13A2, GRN, CLN , 6, 7, 8, 9, 10 LARGE , 6, 7, 8, 9, 10 ABCC8, GCK, PDX1, INS, KCNJ , 6, 7, 8, 9, 10 RPL35A, RPS17, RPL11, RPL5, RPS26, RPS , 8, 9, 10 Familial hypercholesterolemia panel APOB, GHR, LDLR, PCSK9 LDLR, GHR , 6, 7, 8, 9, 10 Fatty acid oxidation disorder panel ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HSD17B10, PPARG, SLC22A5, SLC25A20, TAZ PPARG, SLC22A5, ACADVL , 6, 7, 8, 9, 10 Glycogen storage disease panel (basic) G6PC, SLC37A4, AGL, GBE , 6, 7, 8, 9 Glycogen storage disease panel (advanced) Hyperinsulinemic hypoglycemia panel Leigh syndrome and mitochondrial encephalopathy panel Lipodystrophy panel GYS1, GYS2, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PGAM2, LDHA, ALDOA, ENO3, PHKB, PHKA1, PGM1, GYG1, PRKAG2, PHKG2 ABCC8, GCK, GLUD1, HADH, INSR, KCNJ11, SLC16A1 ACAD9, COQ8A, AIFM1, APTX, ATPAF2, BCS1L, TWNK, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, NDUFA12, NDUFA9, NDUFAF5, SDHA, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP AGPAT2, BSCL2, CAV1, CIDEC, LIPE, LMNA, PIK3R1, PLIN1, PPARG, PTRF GAA , 6, 7, 8, 9, 10 ABCC8, GCK, KCNJ , 6, 7, 8, 9, 10 TWNK, SDHAF1, SUCLA2, COX10, APTX, SUCLG1, MPV17, DGUOK, PDHA1, SDHA, FH, TK , 6, 7, 8, 9, 10 PPARG, LMNA , 6, 7, 8, 9, 10 1-Hotspot ing 2-Carrier ing (point mutation) 3-Carrier ing (del/dup) 4-Full Gene Sequencing (Sanger) Page 7

8 x Panel name Genes Lysosomal storage disease panel AGA, AP3B1, ARSA, ARSB, ASAH1, CLN6, CLN8, CTNS, CTSA, CTSK, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GM2A, GNPTAB, GNPTG, GNS, GUSB, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, LAMP2, LIPA, LYST, MAN2B1, MANBA, MCOLN1, MLPH, MYO5A, NAGA, NAGLU, NEU1, NPC1, NPC2, NPR2, PPT1, PSAP, RAB27A, SGSH, SLC17A5, SMPD1, SUMF1, TPP1 Deletion / duplication testing (genes analyzed) IDS, GAA, GLA, NPC1, NPC2, HEXA, SMPD1, GALC , 6, 7, 8, 9, 10 Methylmalonic acidemia panel (basic) MCEE, MMAA, MMAB, MMADHC, MUT , 6, 7, 8, 9 Methylmalonic acidemia panel (advanced) MODY panel Mucopolysaccharidosis panel ABCD4, ACSF3, CD320, LMBRD1, MCEE, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MTR, MTRR, MUT, SUCLA2, SUCLG1 ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HN- F4A, INS, KCNJ11, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57 ARSB, GALNS, GLB1, GNPTAB, GNPTG, GNS, GUSB, HGSNAT, IDS, IDUA, NAGLU, SGSH SUCLA2, SUCLG1, MLYCD , 6, 7, 8, 9, 10 ABCC8, CEL, GCK, KCNJ11, HNF4A, PDX1, HNF1A, INS, PAX4, NEUROD1, HNF1B, ZFP57, KLF , 6, 7, 8, 9, 10 IDS , 6, 7, 8, 9, 10 Non ketotic hyperglycinemia panel AMT, GCSH, GLDC GLDC, GCSH, AMT , 6, 7, 8, 10 Obesity panel ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, CUL4B, DYRK1B, GNAS, IFT27, LEP, LEPR, LZT- FL1, MAGEL2, MC4R, MKKS, MKS1, NR0B2, NTRK2, PCSK1, PHF6, POMC, SDCCAG8, SIM1, TRIM32, TTC8, UCP3, VPS13B, WDPCP GNAS, LEP, LEPR, MC4R, POMC, SIM1, VPS13B , 10 Refsum disease panel PEX1, PEX2, PEX26, PEX7, PHYH , 6, 7, 8, 9 Surfactant metabolism dysfunction panel ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, SFTPC, SFTPD CSF2RA , 6, 7, 8, 9, 10 Urea cycle disorder panel ARG1, ASL, ASS1, CPS1, NAGS, OTC OTC , 6, 7, 8, 9, 10 Zellweger syndrome panel PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX , 6, 7, 8, 9 Page 8 1-Hotspot ing 2-Carrier ing (point mutation) 3-Carrier ing (del/dup) 4-Full Gene Sequencing (Sanger)

9 x Panel name Genes CentoICU AARS, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTA1, ADA, ADAMTS13, ADAR, ADK, ADNP, ADSL, AGK, AGL, AGPAT2, AGRN, AGXT, AHCY, AICDA, AIFM1, AIMP1, AKAP9, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG14, ALG2, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMT, ANK1, ANKRD26, ANKS6, ANTXR1, AP2S1, AP4B1, AP4E1, AP4M1, AP4S1, APOB, ARG1, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATP1A3, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRX, AUH, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BICD2, BIN1, BLNK, BOLA3, BRAF, BRAT1, BRCA2, BSND, BTD, BTK, C10orf2, C12orf65, C21orf59, CA12, CACNA1C, CACNB2, CALM1, CAMTA1, CASK, CASR, CAST, CAV3, CBS, CCDC103, CCDC114, CCDC78, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD79A, CD79B, CD81, CD96, CDAN1, CDK5RAP2, CDKL5, CDKN1C, CENPJ, CEP152, CEP290, CERS3, CFH, CFHR3, CFL2, CFTR, CHAT, CHD7, CHKB, CHM, CHRNA1, CHRNB1, CHRND, CHRNE, CIDEC, CLCNKA, CLCNKB, CLPB, CNTN1, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COMP, COQ2, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CR2, CRTAP, CTNS, CTPS1, CTSA, CTSD, CUL4B, CXCR4, CYP11B1, CYP11B2, CYP17A1, CYP4F22, CYP7B1, D2HGDH, DBT, DCLRE1C, DDC, DDOST, DDR2, DECR1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DIAPH1, DLAT, DLD, DMD, DNA2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNM2, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM2, DPYD, DRC1, DSP, DST, DUOX2, DUOXA2, DYSF, EDN3, EEF1A2, EGR2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ENPP1, EPB42, EPCAM, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FADD, FAH, FANCA, FANCB, FANCC, FANCD2, FANCL, FARS2, FASTKD2, FBN1, FBP1, FBXL4, FGA, FGB, FGFR2, FGFR3, FGG, FH, FIG4, FKBP14, FKRP, FKTN, FOXC1, FOXG1, FOXP3, FOXRED1, FRAS1, FUCA1, G6PC2, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB2, GJB4, GK, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GLYCTK, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPGD, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, ICOS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IGHMBP2, IGLL1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, INVS, IRF8, ISPD, ITGA2B, ITGA6, ITGA7, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, JAM3, KAT6A, KAT6B, KBTBD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, KLHL7, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LAMTOR2, LARS2, LAS1L, LCT, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LIPT1, LMBRD1, LMNA, LPIN1, LRBA, LRPPRC, LRRC8A, MAGEL2, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCEE, MCM4, MCPH1, MECP2, MED12, MEF2C, MEGF10, MFN2, MFSD8, MITF, MKKS, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MPI, MPL, MPV17, MPZ, MRPL3, MRPL44, MSMO1, MTHFR, MTM1, MTMR14, MTO1, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYH9, NAA10, NAGA, NAGS, NALCN, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NDUFV2, NEB, NEFL, NEU1, NEUROG3, NEXN, NFKB2, NFU1, NGF, NHEJ1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NLRC4, NLRP3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR3C2, NRAS, NSD1, NSDHL, NUBPL, OAT, OCLN, OCRL, OPA3, OPHN1, OPLAH, ORC1, ORC4, OTC, OXCT1, PAFAH1B1, PAH, PAX2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDE10A, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PEPD, PEX1, PEX10, PEX13, PEX19, PEX7, PGAP1, PHGDH, PHOX2B, PIGA, PIGN, PIGT, PIGV, PIK3CD, PKD2, PKHD1, PKLR, PLCB4, PLEC, PLOD1, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA1, PNPO, PNPT1, POGZ, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPT1, PRDM16, PRKAG2, PRKDC, PROC, PRODH, PROP1, PROS1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PTPN11, PTPRC, PTRF, PTRH2, PTS, PURA, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RANBP2, RAPSN, RARS2, RB1, RBBP8, RBM8A, RET, RFT1, RFX5, RFX6, RIT1, RMND1, RMRP, RNASEH2C, RNASET2, RNU4ATAC, RORC, RPS19, RRM2B, RYR1, SALL1, SATB2, SBDS, SCN1A, SCN2A, SCN4A, SCN5A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SEPN1, SERAC1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIL1, SIX3, SIX5, SKI, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC26A2, SLC26A3, SLC2A1, SLC30A2, SLC33A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC52A3, SLC5A1, SLC5A5, SLC6A1, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNAI2, SNX10, SOS1, SOX10, SOX2, SOX9, SPAST, SPEG, SPINK5, SPINT2, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STAT3, STIL, STIM1, STS, STT3B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYNE1, TACO1, TAT, TAZ, TBC1D24, TBCE, TBX19, TBX5, TCAP, TCN2, TFR2, TG, TGM1, TH, THRA, TJP2, TMCO1, TMEM165, TMEM173, TMEM5, TMEM70, TNFRSF13B, TNFRSF13C, TNFSF4, TNNT1, TP63, TPM2, TPM3, TPO, TPP1, TRIP11, TRMU, TRPV4, TSC1, TSC2, TSFM, TSHB, TSHR, TSPYL1, TTC7A, TTN, TUBA8, TUBB2A, UBA1, UGT1A1, UMPS, UNG, UPB1, UQCRC2, UROD, UROS, WAS, WDPCP, WDR62, WDR73, WFS1, WNK1, WT1, ZAP70, ZEB2, ZFP57, ZNF , 9 1-Hotspot ing 2-Carrier ing (point mutation) 3-Carrier ing (del/dup) 4-Full Gene Sequencing (Sanger) Page 9

10 x Panel name Genes CentoICU FAST AARS, AARS2, AASS, ABAT, ABCA12, ABCA3, ABCB11, ABCC8, ABCD1, ABCD3, ABCD4, ACAD8, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACO2, ACOX1, ACSF3, ACTA1, ADA, ADAMTS13, ADAR, ADK, ADNP, ADSL, AGK, AGL, AGPAT2, AGRN, AGXT, AHCY, AICDA, AIFM1, AIMP1, AKAP9, AKR1D1, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG14, ALG2, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, ALS2, AMACR, AMT, ANK1, ANKRD26, ANKS6, ANTXR1, AP2S1, AP4B1, AP4E1, AP4M1, AP4S1, APOB, ARG1, ARL6, ARSA, ARSB, ARX, ASL, ASNS, ASPA, ASPM, ASS1, ATP1A3, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATPAF2, ATR, ATRX, AUH, BCAP31, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BICD2, BIN1, BLNK, BOLA3, BRAF, BRAT1, BRCA2, BSND, BTD, BTK, C10orf2, C12orf65, C21orf59, CA12, CACNA1C, CACNB2, CALM1, CAMTA1, CASK, CASR, CAST, CAV3, CBS, CCDC103, CCDC114, CCDC78, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD59, CD79A, CD79B, CD81, CD96, CDAN1, CDK5RAP2, CDKL5, CDKN1C, CENPJ, CEP152, CEP290, CERS3, CFH, CFHR3, CFL2, CFTR, CHAT, CHD7, CHKB, CHM, CHRNA1, CHRNB1, CHRND, CHRNE, CIDEC, CLCNKA, CLCNKB, CLPB, CNTN1, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COLQ, COMP, COQ2, COQ9, CORO1A, COX10, COX15, COX20, COX6B1, CPS1, CPT1A, CPT2, CR2, CRTAP, CTNS, CTPS1, CTSA, CTSD, CUL4B, CXCR4, CYP11B1, CYP11B2, CYP17A1, CYP4F22, CYP7B1, D2HGDH, DBT, DCLRE1C, DDC, DDOST, DDR2, DECR1, DEPDC5, DES, DGUOK, DHCR24, DHCR7, DIAPH1, DLAT, DLD, DMD, DNA2, DNAH11, DNAH5, DNAI1, DNAI2, DNAJC19, DNM2, DOCK7, DOCK8, DOK7, DOLK, DPAGT1, DPM2, DPYD, DRC1, DSP, DST, DUOX2, DUOXA2, DYSF, EDN3, EEF1A2, EGR2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELAC2, ELANE, ENPP1, EPB42, EPCAM, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FADD, FAH, FANCA, FANCB, FANCC, FANCD2, FANCL, FARS2, FASTKD2, FBN1, FBP1, FBXL4, FGA, FGB, FGFR2, FGFR3, FGG, FH, FIG4, FKBP14, FKRP, FKTN, FOXC1, FOXG1, FOXP3, FOXRED1, FRAS1, FUCA1, G6PC2, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GAN, GARS, GATA1, GATM, GBA, GBE1, GCDH, GCH1, GCK, GCSH, GDAP1, GFAP, GFM1, GFPT1, GJA1, GJB2, GJB4, GK, GLA, GLB1, GLDC, GLIS3, GLRA1, GLRB, GLUD1, GLYCTK, GMPPB, GNAS, GNE, GNMT, GNPAT, GNPTAB, GP1BA, GP1BB, GP9, GPC3, GPHN, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HESX1, HEXA, HEXB, HGD, HGF, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPGD, HRAS, HSD17B10, HSD17B4, HSD3B2, HSD3B7, HSPA9, HSPD1, HSPG2, ICOS, IDUA, IER3IP1, IFIH1, IFT172, IGF1, IGF1R, IGHMBP2, IGLL1, IKBKB, IL12RB1, IL2RA, IL2RG, IL7R, INS, INSR, INVS, IRF8, ISPD, ITGA2B, ITGA6, ITGA7, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, JAM3, KAT6A, KAT6B, KBTBD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, KLHL7, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMP2, LAMTOR2, LARS2, LAS1L, LCT, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LIPT1, LMBRD1, LMNA, LPIN1, LRBA, LRPPRC, LRRC8A, MAGEL2, MAGT1, MALT1, MAN2B1, MANBA, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCEE, MCM4, MCPH1, MECP2, MED12, MEF2C, MEGF10, MFN2, MFSD8, MITF, MKKS, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MPI, MPL, MPV17, MPZ, MRPL3, MRPL44, MSMO1, MTHFR, MTM1, MTMR14, MTO1, MTR, MTRR, MUSK, MUT, MVK, MYCN, MYH9, NAA10, NAGA, NAGS, NALCN, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NDUFV2, NEB, NEFL, NEU1, NEUROG3, NEXN, NFKB2, NFU1, NGF, NHEJ1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NLRC4, NLRP3, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NR0B1, NR3C2, NRAS, NSD1, NSDHL, NUBPL, OAT, OCLN, OCRL, OPA3, OPHN1, OPLAH, ORC1, ORC4, OTC, OXCT1, PAFAH1B1, PAH, PAX2, PAX3, PAX6, PAX8, PC, PCBD1, PCCA, PCCB, PCDH19, PCNT, PDCD10, PDE10A, PDHA1, PDHB, PDHX, PDP1, PDSS2, PDX1, PEPD, PEX1, PEX10, PEX13, PEX19, PEX7, PGAP1, PHGDH, PHOX2B, PIGA, PIGN, PIGT, PIGV, PIK3CD, PKD2, PKHD1, PKLR, PLCB4, PLEC, PLOD1, PLP1, PMM2, PMP22, PNKP, PNP, PNPLA1, PNPO, PNPT1, POGZ, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU1F1, PPT1, PRDM16, PRKAG2, PRKDC, PROC, PRODH, PROP1, PROS1, PRPS1, PRRT2, PSAP, PSAT1, PSPH, PTPN11, PTPRC, PTRF, PTRH2, PTS, PURA, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RANBP2, RAPSN, RARS2, RB1, RBBP8, RBM8A, RET, RFT1, RFX5, RFX6, RIT1, RMND1, RMRP, RNASEH2C, RNASET2, RNU4ATAC, RORC, RPS19, RRM2B, RYR1, SALL1, SATB2, SBDS, SCN1A, SCN2A, SCN4A, SCN5A, SCN9A, SCO1, SCO2, SDHA, SDHAF1, SEPN1, SERAC1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIL1, SIX3, SIX5, SKI, SLC12A6, SLC16A1, SLC16A2, SLC17A5, SLC19A2, SLC19A3, SLC22A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A3, SLC26A2, SLC26A3, SLC2A1, SLC30A2, SLC33A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC52A3, SLC5A1, SLC5A5, SLC6A1, SLC6A3, SLC6A5, SLC7A7, SLC7A9, SLCO1B1, SLCO1B3, SMPD1, SNAI2, SNX10, SOS1, SOX10, SOX2, SOX9, SPAST, SPEG, SPINK5, SPINT2, SPR, SPRED1, SPTA1, SPTAN1, SPTB, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STAT3, STIL, STIM1, STS, STT3B, STXBP1, SUCLA2, SUCLG1, SUMF1, SUOX, SYNE1, TACO1, TAT, TAZ, TBC1D24, TBCE, TBX19, TBX5, TCAP, TCN2, TFR2, TG, TGM1, TH, THRA, TJP2, TMCO1, TMEM165, TMEM173, TMEM5, TMEM70, TNFRSF13B, TNFRSF13C, TNFSF4, TNNT1, TP63, TPM2, TPM3, TPO, TPP1, TRIP11, TRMU, TRPV4, TSC1, TSC2, TSFM, TSHB, TSHR, TSPYL1, TTC7A, TTN, TUBA8, TUBB2A, UBA1, UGT1A1, UMPS, UNG, UPB1, UQCRC2, UROD, UROS, WAS, WDPCP, WDR62, WDR73, WFS1, WNK1, WT1, ZAP70, ZEB2, ZFP57, ZNF , 9 Page 10 1-Hotspot ing 2-Carrier ing (point mutation) 3-Carrier ing (del/dup) 4-Full Gene Sequencing (Sanger)

11 Metabolic Diseases x Disease Gene 2-aminoadipic 2-oxoadipic aciduria DHTKD , 4, 7, 8 2-methylbutyrylglycinuria ACADSB , 4 3-beta-hydroxysteroid dehydrogenase deficiency type 2 HSD3B , 3, 4, 10, 11 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL , 3, 4, 10, 11 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency HMGCS , 4, 10, 11 3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH , 4, 7, 8 3-methylglutaconic aciduria type 1 AUH , 3, 4, 10, 11 3-methylglutaconic aciduria type 3 OPA , 2, 4, 10, 11 3-methylglutaconic aciduria type 5 DNAJC , 4 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC , 3, 4, 7, 8, 10, 11 5-oxoprolinase deficiency OPLAH , 4, 7, 8 6q24-related transient neonatal diabetes mellitus type 1 UPD chr hydroxylation activity deficiency CYP17A , 4, 10, 11 Abetalipoproteinemia MTTP , 4, 7, 8 Acetycholinesterase deficiency ACHE , 4 Acetyl-CoA carboxylase deficiency ACACA , 7, 8 Acyl-CoA medium-chain dehydrogenase deficiency ACADM , 3, 4, 7, 8, 10, 11 Acyl-CoA multiple dehydrogenase deficiency ETFA , 3, 4, 7, 8, 10, 11 Acyl-CoA multiple dehydrogenase deficiency ETFB , 3, 4, 10, 11 Acyl-CoA short-chain dehydrogenase deficiency ACADS , 2, 3, 4, 10, 11 Acyl-CoA very long-chain dehydrogenase deficiency ACADVL , 4, 7, 8, 10, 11 Adenine phosphoribosyltransferase deficiency APRT , 4 Adenylosuccinase deficiency ADSL , 4, 7, 8 Adrenal hyperplasia due to 21-hydroxylase deficiency CYP21A , 4, 10, 11 Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency POR , 4, 7, 8, 10, 11 Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency CYP11B , 3, 4, 10, 11 Adrenal hypoplasia NR0B , 4, 10, 11 Alkaptonuria HGD , 2, 3, 4, 7, 8, 10, 11 Alpha-2-macroglobulin deficiency A2M , 4, 7, 8 Alpha-ketoglutarate dehydrogenase deficiency OGDH , 4, 7, 8 Alpha-methylacyl CoA racemase deficiency AMACR , 3, 4, 10, 11 Aminoacylase deficiency ACY , 4 AMP deaminase deficiency, erythrocytic AMPD , 4, 7, 8 Amyloidosis, familial visceral APOA , 3, 4, 10, 11 Andersen disease GBE , 3, 4, 7, 8, 10, 11 Anemia dyserythropoietic type 1A CDAN , 3, 4, 7, 8, 10, 11 Anemia dyserythropoietic type 2 SEC23B , 3, 4, 7, 8, 10, 11 Antitrypsin-alpha-1 deficiency SERPINA , 2, 3, 4, 10, 11 Aplastic anemia PRF , 4, 10, 11 Aplastic anemia TERC , 4, 10, 11 Aplastic anemia, SBDS related SBDS , 3, 4, 10, 11 Apolipoprotein C-II deficiency APOC , 3, 4, 10, 11 Apparent mineralocorticoid excess HSD11B , 3, 4, 10, 11 Arginase deficiency ARG , 4 Arginine-glycine amidinotransferase deficiency GATM , 3, 4, 10, 11 Argininosuccinic aciduria ASL , 2, 3, 4, 7, 8, 10, 11 Aromatic L-amino acid decarboxylase deficiency DDC , 4, 7, 8 Asparaginesynthetase deficiency ASNS , 4 Aspartylglucosaminuria AGA , 4 Beta-Galactosamide alpha-2,6-sialyltransferase 2 deficiency ST6GAL , 4 Beta-ureidopropionase deficiency UPB , 3, 4, 10, 11 Bile acid malabsorption, primary SLC10A , 4 Bile acid synthesis defect type 2, congenital AKR1D , 4 Bile acid synthesis defect type 3, congenital CYP7B , 3, 4, 10, 11 Bile acid synthesis defect type 4, congenital AMACR , 3, 4, 10, 11 Biotinidase deficiency BTD , 2, 3, 4, 10, 11 Bloom syndrome BLM , 3, 4, 7, 8, 10, 11 Branched-chain aminotransferase 1 deficiency BCAT , 4, 7, 8 Branched-chain aminotransferase 2 deficiency BCAT , 4 Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK , 4 Bronchiectasis with or without elevated sweat chloride type 2 SCNN1A , 3, 4, 7, 8, 10, 11 Butyrylcholinesterase deficiency BCHE , 3, 4, 10, 11 1-Hotspot ing 2-Carrier ing (point mutation) 3-Carrier ing (del/dup) 4-Full Gene Sequencing (Sanger) Page 11

12 Page 12 Carbamoylphosphate synthetase I deficiency CPS , 3, 4, 7, 8, 10, 11 Carnitine deficiency SLC22A , 4, 7, 8, 10, 11 Carnitine palmitoyltransferase 1A deficiency CPT1A , 3, 4, 7, 8, 10, 11 Carnitine palmitoyltransferase 1B deficiency CPT1B , 4, 7, 8 Carnitine palmitoyltransferase 2 deficiency, infantile CPT , 3, 4, 10, 11 Carnitine palmitoyltransferase 2 deficiency, lethal neonatal CPT , 3, 4, 10, 11 Carnitine-acylcarnitine translocase deficiency SLC25A , 3, 4, 10, 11 Catechol-o-methyltransferase deficiency COMT , 4 Ceroid lipofuscinosis neuronal type 1 PPT , 3, 4, 10, 11, 14 Ceroid lipofuscinosis neuronal type 2 TPP , 3, 4, 7, 8, 10, 11, 14 Ceroid lipofuscinosis neuronal type 3 CLN , 4, 10, 11 Ceroid lipofuscinosis neuronal type 4 DNAJC , 4 Ceroid lipofuscinosis neuronal type 5 CLN , 3, 4, 10, 11 Ceroid lipofuscinosis neuronal type 6 CLN , 3, 4, 10, 11 Ceroid lipofuscinosis neuronal type 7 MFSD , 3, 4, 7, 8, 10, 11 Ceroid lipofuscinosis neuronal type 8 CLN , 3, 4, 10, 11 Ceroid lipofuscinosis neuronal type 10 CTSD , 3, 4, 10, 11 Ceroid lipofuscinosis neuronal type 11 GRN , 4, 10, 11 Chanarin-Dorfman syndrome ABHD , 3, 4, 10, 11 Chloramphenicol resistance, MT-RNR2 related MT-RNR Cholestasis benign recurrent intrahepatic type 2 ABCB , 3, 4, 7, 8, 10, 11 Cholestasis intrahepatic, of pregnancy, type 3 ABCB , 4, 7, 8, 10, 11 Cholestasis progressive intrahepatic type 1 ATP8B , 3, 4, 7, 8, 10, 11 Cholestasis progressive intrahepatic type 2 ABCB , 3, 4, 7, 8, 10, 11 Cholestasis progressive intrahepatic type 3 ABCB , 4, 7, 8, 10, 11 Cholestasis, benign recurrent intrahepatic ATP8B , 3, 4, 7, 8, 10, 11 Cholestasis, intrahepatic, of pregnancy, type 1 ATP8B , 3, 4, 7, 8, 10, 11 Cholesteryl ester storage disease LIPA , 3, 4, 10, 11, 14 Chylomicron retention disease SAR1B , 4 Citrin deficiency SLC25A , 3, 4, 7, 8, 10, 11 Citrullinemia ASS , 3, 4, 7, 8, 10, 11 CoA-2 4-dienoyl reductase 1 deficiency DECR , 4 CoA-3-hydroxyacyl dehydrogenase deficiency HADH , 4 CoA-3-methylcrontonyl carboxylase 1 deficiency MCCC , 4, 7, 8 CoA-3-methylcrontonyl carboxylase 2 deficiency MCCC , 4, 7, 8 Colchicine resistance ABCB , 4, 7, 8 Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A , 3, 4, 10, 11 Combined malonic and methylmalonic aciduria ACSF , 4 Combined oxidative phosphorylation deficiency type 1 GFM , 4, 7, 8 Combined oxidative phosphorylation deficiency type 2 MRPS , 4 Combined oxidative phosphorylation deficiency type 3 TSFM , 4 Combined oxidative phosphorylation deficiency type 4 TUFM , 4, 7, 8 Combined oxidative phosphorylation deficiency type 5 MRPS , 4 Combined oxidative phosphorylation deficiency type 6 AIFM , 3, 4, 7, 8, 10, 11 Combined oxidative phosphorylation deficiency type 7 C12ORF , 4 Combined oxidative phosphorylation deficiency type 8 AARS , 4, 7, 8 Combined oxidative phosphorylation deficiency type 9 MRPL , 4 Combined oxidative phosphorylation deficiency type 10 MTO , 3, 4, 7, 8, 10, 11 Combined oxidative phosphorylation deficiency type 11 RMND , 4, 7, 8 Combined oxidative phosphorylation deficiency type 12 EARS , 3, 4, 10, 11 Combined oxidative phosphorylation deficiency type 13 PNPT , 4, 7, 8 Combined oxidative phosphorylation deficiency type 14 FARS , 4 Combined oxidative phosphorylation deficiency type 15 MTFMT , 3, 4, 10, 11 Combined oxidative phosphorylation deficiency type 16 MRPL , 4 Combined oxidative phosphorylation deficiency type 17 ELAC , 4, 7, 8 Combined oxidative phosphorylation deficiency type 18 SFXN , 4, 7, 8 Combined oxidative phosphorylation deficiency type 19 LYRM , 4 Combined oxidative phosphorylation deficiency type 20 VARS , 4, 7, 8 Combined oxidative phosphorylation deficiency type 21 TARS , 4, 7, 8 Combined oxidative phosphorylation deficiency type 22 ATP5A , 4 Combined oxidative phosphorylation deficiency type 23 GTPBP , 4 Combined oxidative phosphorylation deficiency type 24 NARS , 3, 4, 7, 8, 10, 11 Combined oxidative phosphorylation deficiency type 25 MARS , 4 Combined oxidative phosphorylation deficiency type 26 TRMT , 4 Congenital disorder of glycosylation, type Ip ALG , 4 1-Hotspot ing 2-Carrier ing (point mutation) 3-Carrier ing (del/dup) 4-Full Gene Sequencing (Sanger)