Promo Code (if applicable) ... mutation description. 1. Name of Physician. 2. Clinic. 3. Department. 4. Street. 5. Zip Code / Town. 6.

Transcription

1 Genetic Diagnostics A. Analysis Requested 1. Test(s)/Gene(s) 1.1 Single Gene Sequencing 1.2 NGS Panel 1.3 NGS Panel Plus 1.4 NGS Panel Genomic 1.5 Deletion/Duplication Analysis 1.6 Repeat Expansion 1.7 Hotspot Testing 1.8 Carrier Testing Promo Code (if applicable)... mutation description 2. Specific Request: 2.1 Prenatal Diagnosis (additional fee applies) (please contact us prior sample shipment) *Prenatal testing is currently not offered in the US CentoArrayCyto HD CentoArrayCyto 750K B. Patient Name (Label) 1. Surname C. Sender (Reporting Address) 1. Name of Physician 2. First Name 3. Date of Birth M M D D Y Y Y Y 4. Sex 4.1 Male 4.2 Female 5. Street 6. Zip Code / Town 7. Country 8. Your Reference Number 9. Sample Date M M D D Y Y Y Y D. Second Reporting Address (if applicable) 1. Name of Physician 2. Clinic 3. Department 4. Street 5. Zip Code / Town 6. Country 7. Telephone 8. Fax Clinic 3. Department 4. Street 5. Zip Code / Town 6. Country 7. Telephone 8. Fax 9. 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. E. Billing 1. CENTOGENE Quotation No. 2. Invoice to 2.1 Patient 2.2 Clinic/Insurance Please attach authorization/referral 3. Name 4. Department 5. Street 6. ZIP Code / Town 7. Country Genetic Testing for Metabolic Diseases I herewith confirm the correctness of the above given information. Place, Date Signature of Physician 8. VAT No. 9. Telephone 10. Fax 11. 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. To add clinical or additional information please use page 5 We need mandatorily the following pages from you: 1-5 All offered testing results are supported by CentoMD 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 Material Requirements EDTA Blood (2 ml single gene / 10 ml for panels) Filtercards (1 pc. [10 spots], more filtercards for complex genes) Filtercards are available on request from CENTOGENE. Purified DNA (1-10 µg single gene / µg for panels) Tissue (FFPE mg) Amniotic Fluid (10 ml) CVS / Chorionic Villus (10 villi, cleaned) Fibroblast / Skin Biopsy (0.5 cm2) Snap Frozen Affected Tissue (~50mg) Saliva (Oragene OG-510) Kits are available on request from CENTOGENE. Other: For detailed material requirements, please refer to page 17. CLIA #99D ACCREDITED Page 1

2 Consent form for conducting genetic analyses It is mandatory to ensure that a patient has signed his or her consent to conduct genetic analyses. This can be given either by: Part (I): Signed consent on the part of the patient OR Part (II): Signed confirmation on the part of the physician stating that the signed patient consent exists in the files CENTOGENE needs either Part (I) OR (II) in order to be legally able to conduct genetic analysis. Please ensure that the applicable document accompanies the sample(s). Dear patient, Your physician has recommended for you (or a person for whom you have custody and you care for) a genetic analysis to clarify the following diagnosis/symptoms: It is also not possible to exclude every disease risk for yourself and your family members (especially your children) utilizing genetic analyses. The knowledge of the results may result in mental stress. It is always recommended to discuss the details of the genetic report with your local doctor. Information (to be completed by physician) We would like to explain the purpose of these analyses, what occurs with a genetic test and the importance the results could have for you and your family. For more specific information on the genetic test, please refer to the requisition form. The purpose of a genetic test is to study your genetic material (DNA) using a molecular-genetic method that has the capability to detect the disease that has occurred or is suspected in you or your family based on changes (called mutations). In a genetic analysis depending on the case either individual genetic characteristics for a specific condition or many genetic characteristics are investigated at the same time using an overview method (e.g. using exome or genome sequencing). The study material that is used for your genetic test is stated in the requisition form and is typically blood. Incidental findings: In principle, results can occur for all testing techniques that are not directly related to the actual issue but may still be of medical importance for you and your family (so-called incidental findings). In particular for the overview methods such as genome sequencing, incidental results can occur that relate to higher risks (that you may not be aware of ) for potentially serious, unavoidable or non-treatable diseases. As part of the consent you can decide whether and under what circumstances you wish to be informed about such incidental findings. Family findings: If several family members are tested, a correct interpretation of the results depends on the assumed relationships being correct. If doubt is created by the genetic analysis about the apparent relationships, we will not inform you. An exception will be made if it is absolutely necessary for the completion of the requested test. Use of the sample/results: The sample and the test results will be used for the analysis and in accordance with your consent declaration that is stated below. The test results will also be used - if possible - for treatment decisions by your physician(s). Information Significance of the results: If a characteristic result in a disease is demonstrated, this result is usually highly conclusive. If no disease-causing mutation is found, genetic changes responsible for the disease may still exist. A genetic disease or tendency to have a disease can therefore not usually be fully excluded. Sometimes gene variants are proven but their significance is not clear. This is stated in the results and discussed with you. A comprehensive explanation of all possible causes of diseases due to genetic reasons is not possible. Right of revocation: You can withdraw your consent to the analysis/examination with effect for the future at any time in full or in part without stating reasons. Right not to know: You have the right not to be informed about test results (right not to know), 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 test/examination results not already known to you. Page 2 Page 1 V6.1eng_Information_November2017

3 Part (I): Declaration of consent (please read this carefully) Patient Copy By signing this declaration of consent I acknowledge that I have received, read and understood the preceding written explanation of genetic analyses and the further explanation contained in the requisition form; I have received appropriate explanations (from my physician) with regard to the disease: (to be filled in by the physician) the genetic basis, the purpose, scope, type and significance of the planned genetic test(s), achievable results by the planned test, the importance of the analyzed genetic characteristics for my disease/ health disturbance, possibilities of prevention/treatment of a disease or a health disturbance as well as with regard to risks associated with (1) the generation of the sample required for the genetic testing and (2) the knowledge of the results of the genetic testing. All my questions have been answered and I have had the necessary consideration time. if these members have consented, and the results of the genetic analysis and examination, as well as the remaining samples (including original and processed samples; together the remaining samples ) for a period of at least 20 years. The retention of these results and of my remaining samples may be useful for advising/testing me and my family members with regard to the above specified disease, for the verification/checking of results, for requests, for quality assurance, for the tracking of latest scientific findings related to the results, to improve the diagnostics and treatment of genetic diseases and for internal and external research in the field of genetic diseases and of biological mechanisms that may lead to diseases. Incidental Findings yes no Mandatory With my signature at the end of this declaration I give my consent (1) to the genetic analysis by CENTOGENE AG, Am Strande 7, Rostock, Germany, (CENTOGENE) for the subject stated above and which is described in more detail in the preceding written explanation of genetic analysis and in the requisition form, (2) to the collection, processing and use by my physician and CENTOGENE of my personal data (that may also refer to my health) required to conduct that analysis and to transfer my personal data between physician and CENTOGENE electronically across country borders, (3) to the generation of the necessary sample as specified by my physician and above, (4) to the storage and use of the sample for as long as it is required to verify/check the results, (5) to add to my record and use for the above purposes if applicable personal data on members of my family if these members have consented, (6) to inform me or my physician or if CENTOGENE has been instructed by a laboratory acting on behalf of my physician this laboratory about the results of the genetic analysis and (7) to provide upon my separate request to me, my physician or as the case may be the instructing laboratory the raw data of the genetic analysis. I also release CENTOGENE and its employees from their secrecy obligation as a physician or healthcare professional vis-à-vis service and external data storage providers that administer and maintain systems, databases and software of CENTOGENE or provide external data storage to CENTOGENE. I am aware that I can revoke my consent in full or in part at any time with effect for the future without stating reasons and that I have the right not to know as described in the preceding written explanation. By ticking the relevant YES boxes below, I consent to the following activities: Further storage and use of personal data, results and samples CENTOGENE stores and uses my personal data stated in the requisition form and/or provided by my physician (e.g. name, birthday, address, description and symptoms of the disease), the personal data on members of my family (e.g. names and the symptoms of the disease) As the whole exome sequencing and the whole genome sequencing tests are analyzing numerous different genes, there is a possibility for the recognition of incidental findings that are not necessarily related to the reason for ordering whole exome sequencing/whole genome sequencing. These findings can provide information that was not anticipated and that are unrelated to your reported clinical features, but can be of medical value for patient care. I agree, that CENTOGENE generally reports mutations of the specified classes or types in the genes in accordance with the ACMG Recommendations for Reporting of Incidental Findings. However, I agree, that CENTOGENE may in its sole discretion also report (other) incidental findings in other cases or refrain from reporting incidental findings although this is recommended as per the said recommendations. yes no Storage and use of personal data and samples for research and other purposes as well as to facilitate and improve the diagnosis My test results and remaining samples can help to promote research and improve the diagnosis and treatment of genetic diseases. CENTOGENE, for example, may use the results and remaining samples for research purposes (e.g. to detect and develop biomarkers) as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) for other patients. CENTOGENE also operates a database in which a huge number of results of genetic tests that were rendered anonymous or pseudonymous are stored. CENTOGENE may also provide access to this database to external physicians, scientists, researchers and (pharmaceutical) companies for research purposes, as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) in other patients. The test results contained in the database are anonymous for the physicians, scientists, researchers and companies. Anonymized test results in CENTOGENE s database cannot be destroyed as they become unidentifiable and untraceable after their input into CENTOGENE s database. Mandatory Place, Date yes no Name of Patient/ Guardian Signature of Patient/ Guardian Page 3 Page 1 of 2 V6.1eng_November2017

4 Mandatory Part (II): Confirmation of patient consent by physician Name of patient: DOB: M M D D Y Y Y Y Patient-ID: (please provide always at least two identifiers, e.g. name of patient and date of birth) Examination target: CENTOGENE AG, Am Strande 7, Rostock, Germany (CENTOGENE), is subject to German legislation which requires a specified patient consent form to be signed by the patient for conducting genetic analyses. Under the specific circumstances of the institution the undersigned is working for, patients declare an individual consent according to local requirements in the local language. We/I hereby confirm that the following requirements are met with respect to the consent that has been declared by the patient or (as the case may be) his/her legal representative: The patient has been duly informed with regard to the specific case about the purpose, scope, type and significance of the planned genetic test(s), achievable results by the planned test, the limitations of the test, the importance of the analyzed genetic characteristics for his/her disease/health disturbance, possibilities of prevention/treatment of a disease or a health disturbance, the planned use of the sample (including processed samples) and of the test results as well as with regard to risks associated with (1) the generation of the sample required for the genetic testing and (2) the knowledge of the results of the genetic testing. The patient was informed that the test will cover all disorders indicated on the requisition form, and we/i will ensure that the test results will be interpreted to the patient in an appropriate manner, and that the patient will not receive the results without accompanying counseling. The patient was informed that she/he has the right (1) to revoke his/her consent at any time with effect for the future and (2) not to be informed about test results (right not to know), (3) to stop the testing processes that have been started at any time up to being given the results and (4) to request the destruction of all test/examination results not already known to him/her. We/I confirm that the patient is legally capable of providing this consent (respectively that the consent was given by an authorized representative), that all questions of the patient have been answered, that the patient had the necessary consideration time and that the patient has not exercised his right not to know. We/I confirm that the patient has consented to (1) to the genetic analysis by CENTOGENE for the subject stated above and which is described in more detail in the preceding written explanation of genetic analysis and in the requisition form, (2) the collection, processing and use of his/her personal (health) data by CENTOGENE required to conduct the analysis and to transfer his/her personal data between physician and CENTOGENE electronically across country borders, (3) the generation of the sample, (4) to the storage and use of the sample for as long as it is required to verify/ check the results, (5) adding to his/her record and using for the above purposes personal data on members of his/her family if these members have consented, (6) inform him/her or me or in case CENTOGENE has been instructed by a laboratory acting on my behalf this laboratory about the results of the genetic analysis and (7) to provide upon his/her separate request to him, me or as the case may be the instructing laboratory the raw data of the genetic analysis. Place, Date Name of Physician Contact Details Customer Service Tel.: +49 (0) Fax: +49 (0) Page 4 dmqc@centogene.com Physician Copy We/I confirm that the patient has released CENTOGENE and its employees from their secrecy obligations as physician or healthcare professional vis-à-vis service and external data storage providers that administer and maintain databases and software of CENTOGENE or provide external data storage to CENTOGENE. Furthermore, we/i confirm that: The patient agrees that CENTOGENE stores and uses (1) his/her personal data stated in the requisition form and/ or provided by me/us, personal data on his/her family if his/ her family members have consented the results of the genetic analysis as well as the remaining samples for a period of at least 20 years for the purposes of advising/testing his/her family members with regard to the disease specified in the consent, for the verification/checking of results, for requests, for quality assurance, for the tracking of latest scientific findings related to the results, to improve the diagnostics and treatment of genetic diseases and for internal and external research in the field of genetic diseases and of biological mechanisms that may lead to diseases and (2) his/her personal data, the results of the genetic analysis as well as the remaining samples for any later examinations of him/her. yes The patient agrees that he/she wants to be informed about incidental findings, i.e. findings that are not directly related to the actual issue. yes The patient agrees that CENTOGENE stores and uses (1) his/her remaining samples and test results that may contain data about his/her health for research purposes (e.g. to detect and develop biomarkers) as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) in other patients and (2) his/her test results that may contain data about his/her health in an anonymized or pseudonymized form together with other test results in a database and provides access to the database to physicians, scientists, researchers and (pharmaceutical) companies for research and other purposes, as well as to facilitate and improve the diagnosis of genetic changes and diseases (also) for other patients. The test results contained in the database are anonymous for the physicians, scientists, researchers and companies. We/I also confirm that the patient was informed that anonymized test results in CENTOGENE s database cannot be destroyed as they become unidentifiable and untraceable after their input into CENTOGENE s database. yes no We/I confirm that we/i have the patient s signature on file for all of the issues mentioned above and that we/i are aware that the patient can request us to have his/her results eliminated if they are not already known to him/her at any time and that we/i shall convey this request to CENTOGENE. We/I confirm that we/i will retain the consent form signed by the patient for an unlimited period of time and that we will provide CENTOGENE with this form upon first request. Signature of Physician Please send the samples together with a completed request form to: no no CENTOGENE AG Am Strande Rostock Germany Page 2 of 2 V6.1eng_November2017 Mandatory

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 Panel name Brain iron accumulation syndromes panel Ceroid lipofuscinosis panel Congenital glycosylation disease panel Diabetes neonatal panel Genes ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, SCP2, WDR45 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 Test (genes analyzed) S D R H C V G P PANK2, ATP13A2, PLA2G S D V G P ATP13A2, GRN, CLN S D V G P LARGE 5083 S D V G ABCC8, GCK, PDX1, INS, KCNJ S D V G P Diamond-Blackfan anemia panel RPL35A, RPS17, RPL11, RPL5, RPS26, RPS S D G P Familial hypercholesterolemia panel APOB, GHR, LDLR, PCSK9 LDLR, GHR 5214 S D V G P 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 5268 S D V G P Glycogen storage disease panel (basic) G6PC, SLC37A4, AGL, GBE S V G P 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 ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1 GAA 5204 S D V G P ABCC8, GCK, KCNJ S D V G P TWNK, SDHAF1, SUCLA2, COX10, APTX, SUCLG1, MPV17, DGUOK, PDHA1, SDHA, FH, TK S D V G P PPARG, LMNA 5308 S D V G Lysosomal storage disease panel HEXA, SMPD1, GALC 5101 S D V G P Methylmalonic acidemia panel (basic) MCEE, MMAA, MMAB, MMADHC, MUT 5216 S V G P Methylmalonic acidemia panel (advanced) SUCLA2, SUCLG1, MLYCD 5217 S D V G P MODY 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 ABCC8, CEL, GCK, KCNJ11, HNF4A, PDX1, HNF1A, INS, PAX4, NEUROD1, HNF1B, ZFP57, KLF S D V G P Mucopolysaccharidosis panel IDS 5069 S D V G P Non ketotic hyperglycinemia panel AMT, GCSH, GLDC GLDC, GCSH, AMT 5345 S D V P 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 5301 S D Refsum disease panel PEX1, PEX2, PEX26, PEX7, PHYH 5094 S V G P ABCA3, CSF2RA, CSF2RB, SFTPA1, SFTPB, Surfactant metabolism dysfunction panel CSF2RA 5211 SFTPC, SFTPD S D V G P Urea cycle disorder panel ARG1, ASL, ASS1, CPS1, NAGS, OTC OTC 5072 S D V G P Zellweger syndrome panel 5049 S V G P PEX1, PEX2, PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26 Page 6

7 Metabolic Diseases - Large Extended Screening Panels Panel name CentoICU platinum Genes 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, 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, KBT- BD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, 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, SFT- PB, 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, ZNF423 Test 5288 L P L P* Page 7

8 Panel name CentoICU platinum plus Genes 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, 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, KBT- BD13, KCNE1, KCNH1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNT1, KCTD7, KIF1B, KLF1, KLHL40, KLHL41, 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, SFT- PB, 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, ZNF423 Test 5289 L P L P* Metabolic Diseases Test Disease Gene OMIM Gene S D R H C P 2-aminoadipic 2-oxoadipic aciduria DHTKD S 2-methylbutyrylglycinuria ACADSB S 3-beta-hydroxysteroid dehydrogenase deficiency type 2 HSD3B S D P 3-hydroxy-3-methylglutaryl-CoA lyase deficiency HMGCL S D 3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency HMGCS S D 3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH S 3-methylglutaconic aciduria type 1 AUH S D P 3-methylglutaconic aciduria type 3 OPA S D H P 3-methylglutaconic aciduria type 5 DNAJC S 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SERAC S D 5-oxoprolinase deficiency OPLAH S 6q24-related transient neonatal diabetes mellitus type 1 UPD chr D 17-hydroxylation activity deficiency CYP17A S D P Abetalipoproteinemia MTTP S Acetycholinesterase deficiency ACHE S Acetyl-CoA carboxylase deficiency ACACA S Acyl-CoA medium-chain dehydrogenase deficiency ACADM S D P Acyl-CoA multiple dehydrogenase deficiency ETFA S D P Acyl-CoA multiple dehydrogenase deficiency ETFB S D P Page 8

9 Test Disease Gene OMIM Gene S D R H C P Acyl-CoA short-chain dehydrogenase deficiency ACADS S D H P Acyl-CoA very long-chain dehydrogenase deficiency ACADVL S D P Adenine phosphoribosyltransferase deficiency APRT S Adenylosuccinase deficiency ADSL S Adrenal hyperplasia due to 21-hydroxylase deficiency CYP21A S D P Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency POR S D P Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency CYP11B S D P Adrenal hypoplasia NR0B S D P Alkaptonuria HGD S D H P Alpha-2-macroglobulin deficiency A2M S Alpha-ketoglutarate dehydrogenase deficiency OGDH S Alpha-methylacyl CoA racemase deficiency AMACR S D P Aminoacylase deficiency ACY S AMP deaminase deficiency, erythrocytic AMPD S Amyloidosis, familial visceral APOA S D Andersen disease GBE S D P Anemia dyserythropoietic type 1A CDAN S D P Anemia dyserythropoietic type 2 SEC23B S D P Antitrypsin-alpha-1 deficiency SERPINA S D H P Aplastic anemia PRF S D P Aplastic anemia TERC S D P Aplastic anemia, SBDS related SBDS S D P Apolipoprotein C-II deficiency APOC S D P Apparent mineralocorticoid excess HSD11B S D P Arginase deficiency ARG S Arginine-glycine amidinotransferase deficiency GATM S D P Argininosuccinic aciduria ASL S D H P Aromatic L-amino acid decarboxylase deficiency DDC S Asparaginesynthetase deficiency ASNS S Aspartylglucosaminuria AGA S Beta-Galactosamide alpha-2,6-sialyltransferase 2 deficiency ST6GAL S P Beta-ureidopropionase deficiency UPB S D Bile acid malabsorption, primary SLC10A S Bile acid synthesis defect type 2, congenital AKR1D S Bile acid synthesis defect type 3, congenital CYP7B S D P Bile acid synthesis defect type 4, congenital AMACR S D P Biotinidase deficiency BTD S D H P Bloom syndrome BLM S D P Branched-chain aminotransferase 1 deficiency BCAT S Branched-chain aminotransferase 2 deficiency BCAT S Branched-chain ketoacid dehydrogenase kinase deficiency BCKDK S Bronchiectasis with or without elevated sweat chloride type 2 SCNN1A S D P Butyrylcholinesterase deficiency BCHE S D Carbamoylphosphate synthetase I deficiency CPS S D P Carnitine deficiency SLC22A S D P Carnitine palmitoyltransferase 1A deficiency CPT1A S D P Carnitine palmitoyltransferase 1B deficiency CPT1B S Carnitine palmitoyltransferase 2 deficiency, infantile CPT S D P Carnitine palmitoyltransferase 2 deficiency, lethal neonatal CPT S D P Carnitine-acylcarnitine translocase deficiency SLC25A S D P Catechol-o-methyltransferase deficiency COMT S Ceroid lipofuscinosis neuronal type 1 PPT S D P Ceroid lipofuscinosis neuronal type 2 TPP S D P Ceroid lipofuscinosis neuronal type 3 CLN S D P Ceroid lipofuscinosis neuronal type 4 DNAJC S Ceroid lipofuscinosis neuronal type 5 CLN S D P Ceroid lipofuscinosis neuronal type 6 CLN S D P Ceroid lipofuscinosis neuronal type 7 MFSD S D P* Ceroid lipofuscinosis neuronal type 8 CLN S D P Ceroid lipofuscinosis neuronal type 10 CTSD S D P Ceroid lipofuscinosis neuronal type 11 GRN S D P* Chanarin-Dorfman syndrome ABHD S D P Chloramphenicol resistance, MT-RNR2 related MT-RNR S Cholestasis benign recurrent intrahepatic type 2 ABCB S D P Cholestasis intrahepatic, of pregnancy, type 3 ABCB S D P Page 9

10 Test Disease Gene OMIM Gene S D R H C P Cholestasis progressive intrahepatic type 1 ATP8B S D P Cholestasis progressive intrahepatic type 2 ABCB S D P Cholestasis progressive intrahepatic type 3 ABCB S D P Cholestasis, benign recurrent intrahepatic ATP8B S D P Cholestasis, intrahepatic, of pregnancy, type 1 ATP8B S D P Cholesteryl ester storage disease LIPA S D P Chylomicron retention disease SAR1B S Citrin deficiency SLC25A S D P Citrullinemia ASS S D P CoA-2 4-dienoyl reductase 1 deficiency DECR S CoA-3-hydroxyacyl dehydrogenase deficiency HADH S CoA-3-methylcrontonyl carboxylase 1 deficiency MCCC S CoA-3-methylcrontonyl carboxylase 2 deficiency MCCC S Colchicine resistance ABCB S Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A S D Combined malonic and methylmalonic aciduria ACSF S Combined oxidative phosphorylation deficiency type 1 GFM S Combined oxidative phosphorylation deficiency type 2 MRPS S Combined oxidative phosphorylation deficiency type 3 TSFM S Combined oxidative phosphorylation deficiency type 4 TUFM S Combined oxidative phosphorylation deficiency type 5 MRPS S Combined oxidative phosphorylation deficiency type 6 AIFM S D P Combined oxidative phosphorylation deficiency type 7 C12ORF S Combined oxidative phosphorylation deficiency type 8 AARS S Combined oxidative phosphorylation deficiency type 9 MRPL S Combined oxidative phosphorylation deficiency type 10 MTO S D P Combined oxidative phosphorylation deficiency type 11 RMND S Combined oxidative phosphorylation deficiency type 12 EARS S D Combined oxidative phosphorylation deficiency type 13 PNPT S Combined oxidative phosphorylation deficiency type 14 FARS S Combined oxidative phosphorylation deficiency type 15 MTFMT S D Combined oxidative phosphorylation deficiency type 16 MRPL S Combined oxidative phosphorylation deficiency type 17 ELAC S Combined oxidative phosphorylation deficiency type 18 SFXN S Combined oxidative phosphorylation deficiency type 19 LYRM S Combined oxidative phosphorylation deficiency type 20 VARS S Combined oxidative phosphorylation deficiency type 21 TARS S Combined oxidative phosphorylation deficiency type 22 ATP5A S Combined oxidative phosphorylation deficiency type 23 GTPBP S Combined oxidative phosphorylation deficiency type 24 NARS S D Combined oxidative phosphorylation deficiency type 25 MARS S Combined oxidative phosphorylation deficiency type 26 TRMT S Congenital disorder of glycosylation, type Ip ALG S Congenital disorder of glycosylation, type Iq SRD5A S Congenital disorder of glycosylation, type Iw STT3A S Coproporphyria CPOX S D Coumarin resistance VKORC S Coumarin/Warfarin resistance due to CYP2C9 variants CYP2C S D Creatine deficiency syndrome X-linked SLC6A S D P CYP2C19 related poor drug metabolism CYP2C S D P Cystathioninuria CTH S Cystic fibrosis CFTR S D P Cystic fibrosis, SLC6A14 related SLC6A S D Cystinosis, nephropathic CTNS S D P Cytochrome P450 deficiency CYP1A S D D-2-hydroxyglutaric aciduria type 1 D2HGDH S D P D-2-hydroxyglutaric aciduria type 2 IDH S D P D-bifunctional protein deficiency HSD17B S D P D-glyceric aciduria GLYCTK S Diabetes insipidus, nephrogenic, X-linked AVPR S D P Diabetes insipidus, neurohypophyseal AVP S D Diabetes mellitus type 1 INS S D P Diabetes mellitus, insulin-dependent type 20 HNF1A S D P* Diabetes mellitus, insulin-resistant with acanthosis nigricans INSR S D P* Diabetes mellitus, neonatal GLIS S P Page 10

11 Test Disease Gene OMIM Gene S D R H C P Diabetes mellitus, noninsulin-dependent ABCC S D P Diabetes mellitus, noninsulin-dependent AKT S Diabetes mellitus, noninsulin-dependent KCNJ S D P Diabetes mellitus, permanent neonatal ABCC S D P Diabetes mellitus, transient neonatal type 2 ABCC S D P Diabetes, IGF2 related IGF S D P Diarrhea type 1, secretory chloride, congenital SLC26A S D P Diarrhea type 4, malabsorptive, congenital NEUROG S D P Dihydropyrimidine dehydrogenase deficiency DPYD S D Dihydropyrimidinuria DPYS S Dimethylglycine dehydrogenase deficiency DMGDH S Dyggve-Melchior-Clausen disease DYM S Efavirenz, poor metabolism of CYP2B S D Enterokinase deficiency TMPRSS S Erythrocyte lactate transporter defect SLC16A S D P* Fabry disease GLA S D P Factor II deficiency F S H Factor V deficiency F S H P Factor XIIIB deficiency F13B S Fanconi anemia type A FANCA S D P Fanconi anemia type B FANCB S D P Fanconi anemia type C FANCC S Fanconi anemia type D1 BRCA S D Fanconi anemia type D2 FANCD S D P Fanconi anemia type E FANCE S Fanconi anemia type F FANCF S P Fanconi anemia type G FANCG S D Fanconi anemia type I FANCI S Fanconi anemia type J BRIP S D P Fanconi anemia type L FANCL S Fanconi anemia type M FANCM S Fanconi anemia type N PALB S D P Fanconi anemia type P SLX S P Fanconi anemia, XRCCR2 related XRCC S D P* Fanconi-Bickel syndrome SLC2A S D P Farber disease ASAH S D P Favism, susceptibility to G6PD S D P* Fish eye disease LCAT S D P Folate malabsorption, hereditary SLC46A S Fructose-1,6-bisphosphatase deficiency FBP S D P Fructose intolerance ALDOB S D P Fructose uptake deficiency, SLC2A5 related SLC2A S Fructosuria essential KHK S Fucosidosis FUCA S D P Fumarase deficiency FH S D P GABA-transaminase deficiency ABAT S Galactokinase deficiency GALK S D P Galactose epimerase deficiency GALE S D P Galactosemia GALT S D P Galactosialidosis CTSA S D P Gallbladder disease type 1 ABCB S D P Gaucher disease type 1 GBA S D P Gaucher disease type 2 GBA S D H P Gaucher disease type 3C GBA S D H P Gaucher disease type 3 GBA S D H P Gaucher disease, atypical PSAP S D P Gaucher disease, perinatal lethal GBA S D H P Glucocorticoid deficiency type 1 MC2R S Glucocorticoid deficiency type 2 MRAP S Glucose/Galactose malabsorption SLC5A S D P Glutamate formiminotransferase deficiency FTCD S Glutamine deficiency, congenital GLUL S Glutaric acidemia type 1 GCDH S D P Glutaric acidemia type 2C ETFDH S D P Glutaric aciduria type 3 SUGCT S Page 11