High Impact Treatment Benefits X-Linked Moderate Impact. Disease Gene # Mutations Disease Group(s)
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1 CarrierMap Expanded v3 Panel: 314 Diseases CarrierMap screen for 316 diseases including DMD. Disease Groups High Impact Treatment Benefits X-Linked Moderate Impact These diseases have a significant impact on life expectancy and quality of life. Treatment lessens disease symptoms. Newborn screening may be available for timely intervention. These diseases are passed down by female carriers. Carriers may have symptoms. These diseases typically do not affect life expectancy but can affect quality of life. 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia CYP11B Alpha-Hydroxylase Deficiency CYP17A Beta-Hydroxysteroid Dehydrogenase Deficiency HSD17B Hydroxylase-Deficient Classical Congenital Adrenal Hyperplasia CYP21A Hydroxylase-Deficient Nonclassical Congenital Adrenal Hyperplasia CYP21A2 1 3-Beta-Hydroxysteroid Dehydrogenase Deficiency HSD3B2 6 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related MCCC1 2 3-Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related MCCC2 8 3-Methylglutaconic Aciduria: Type 3 OPA3 3 3-Phosphoglycerate Dehydrogenase Deficiency PHGDH 7 5-Alpha Reductase Deficiency SRD5A Pyruvoyl-Tetrahydropterin Synthase Deficiency PTS 6 Abetalipoproteinemia MTTP 2 Acrodermatitis Enteropathica SLC39A4 7 Acute Infantile Liver Failure: TRMU Related TRMU 5 Acyl-CoA Oxidase I Deficiency ACOX1 5 Adenosine Deaminase Deficiency ADA 22 Adrenoleukodystrophy: X-Linked ABCD1 21 Alkaptonuria HGD 14 Alpha-1-Antitrypsin Deficiency SERPINA1 4 Alpha-Mannosidosis MAN2B1 3 Alpha Thalassemia HBA1, 9 HBA2 Alport Syndrome: COL4A3 Related COL4A3 3 Alport Syndrome: COL4A4 Related COL4A4 5 Alport Syndrome: X-linked COL4A5 3 Amegakaryocytic Thrombocytopenia MPL 23 Andermann Syndrome SLC12A6 5 Androgen Insensitivity Syndrome: Complete AR 15 Antley-Bixler Syndrome POR 4 Argininemia ARG1 13 Page 1 of 9
2 Argininosuccinate Lyase Deficiency ASL 7 Aromatase Deficiency CYP19A1 10 ARSACS SACS 6 Arthrogryposis, Mental Retardation, & Seizures SLC35A3 2 Arts Syndrome PRPS1 2 Asparagine Synthetase Deficiency ASNS 1 Aspartylglycosaminuria AGA 7 Ataxia-Telangiectasia ATM 20 Ataxia with Vitamin E Deficiency TTPA 14 Autosomal Recessive Polycystic Kidney Disease PKHD1 40 Bardet-Biedl Syndrome: BBS10 Related BBS10 3 Bardet-Biedl Syndrome: BBS11 Related TRIM32 1 Bardet-Biedl Syndrome: BBS12 Related BBS12 5 Bardet-Biedl Syndrome: BBS1 Related BBS1 3 Bardet-Biedl Syndrome: BBS2 Related BBS2 8 Bare Lymphocyte Syndrome: Type II CIITA 3 Bartter Syndrome: Type 4A BSND 6 Beta-Hexosaminidase Pseudodeficiency HEXA 2 Beta-Ketothiolase Deficiency ACAT1 20 Beta Thalassemia HBB 81 Biotinidase Deficiency BTD 21 Bloom Syndrome BLM 25 Canavan Disease ASPA 8 Carnitine-Acylcarnitine Translocase Deficiency SLC25A20 7 Carnitine Palmitoyltransferase IA Deficiency CPT1A 10 Carnitine Palmitoyltransferase II Deficiency CPT2 20 Carpenter Syndrome RAB23 2 Cartilage-Hair Hypoplasia RMRP 2 Cerebrotendinous Xanthomatosis CYP27A1 14 Charcot-Marie-Tooth Disease with Deafness: X-Linked: GJB1 Related GJB1 22 Charcot-Marie-Tooth Disease with Deafness: X-Linked: PRPS1 Related PRPS1 2 Chediak-Higashi Syndrome LYST 4 Cholesteryl Ester Storage Disease LIPA 4 Choreoacanthocytosis VPS13A 1 Choroideremia CHM 1 Chronic Granulomatous Disease: CYBA Related CYBA 12 Chronic Granulomatous Disease: X-Linked CYBB 14 Citrin Deficiency SLC25A13 8 Citrullinemia: Type I ASS1 11 Classical Galactosemia GALT 18 Page 2 of 9
3 Cockayne Syndrome: Type A ERCC8 3 Cockayne Syndrome: Type B ERCC6 7 Cohen Syndrome VPS13B 9 Combined Pituitary Hormone Deficiency: PROP1 Related PROP1 11 Congenital Disorder of Glycosylation: Type 1A: PMM2 Related PMM2 5 Congenital Disorder of Glycosylation: Type 1B: MPI Related MPI 1 Congenital Disorder of Glycosylation: Type 1C: ALG6 Related ALG6 4 Congenital Ichthyosis: ABCA12 Related ABCA12 8 Congenital Insensitivity to Pain with Anhidrosis NTRK1 12 Congenital Lipoid Adrenal Hyperplasia STAR 12 Congenital Myasthenic Syndrome: CHRNE Related CHRNE 13 Congenital Myasthenic Syndrome: DOK7 Related DOK7 6 Congenital Myasthenic Syndrome: RAPSN Related RAPSN 11 Congenital Neutropenia: Recessive HAX1 6 Copper Transport Disorders ATP7A 10 Corneal Dystrophy and Perceptive Deafness SLC4A11 8 Corticosterone Methyloxidase Deficiency CYP11B2 3 Crigler-Najjar Syndrome UGT1A1 11 Cystic Fibrosis CFTR 150 Cystinosis CTNS 14 Cystinuria: Non-Type I SLC7A9 15 Cystinuria: Type I SLC3A1 10 D-Bifunctional Protein Deficiency HSD17B4 6 Diabetes: Recessive Permanent Neonatal ABCC8 2 DMD-Related Muscular Dystrophies DMD 1 Du Pan Syndrome GDF5 4 Dyskeratosis Congenita: RTEL1 Related RTEL1 5 Dystrophic Epidermolysis Bullosa: Recessive COL7A1 11 Ehlers-Danlos Syndrome: Type VIIC ADAMTS2 2 Ellis-van Creveld Syndrome: EVC2 Related EVC, 3 EVC2 Ellis-van Creveld Syndrome: EVC Related EVC 10 Emery-Dreifuss Myopathy: X-Linked EMD 3 Enhanced S-Cone NR2E3 5 Ethylmalonic Aciduria ETHE1 4 Fabry's Disease GLA 22 Factor IX Deficiency F9 7 Factor VIII Deficiency F8 33 Familial Chloride Diarrhea SLC26A3 6 Familial Dysautonomia IKBKAP 4 Page 3 of 9
4 Familial Hyperinsulinism: Type 1: ABCC8 Related ABCC8 11 Familial Hyperinsulinism: Type 2: KCNJ11 Related KCNJ11 6 Familial Mediterranean Fever MEFV 12 Fanconi Anemia: Type A FANCA 10 Fanconi Anemia: Type C FANCC 8 Fanconi Anemia: Type G FANCG 5 Fanconi Anemia: Type J BRIP1 1 Fragile X Syndrome FMR1 1 Fumarase Deficiency FH 1 Galactokinase Deficiency GALK1 7 Gaucher Disease GBA 6 Gitelman Syndrome SLC12A3 11 Globoid Cell Leukodystrophy GALC 10 Glucose-6-Phosphate Dehydrogenase Deficiency G6PD 7 Glutaric Acidemia: Type I GCDH 8 Glutaric Acidemia: Type IIA ETFA 5 Glutaric Acidemia: Type IIB ETFB 2 Glutaric Acidemia: Type IIC ETFDH 8 Glycine Encephalopathy: AMT Related AMT 6 Glycine Encephalopathy: GLDC Related GLDC 5 Glycogen Storage Disease: Type IA G6PC 13 Glycogen Storage Disease: Type IB SLC37A4 5 Glycogen Storage Disease: Type II GAA 13 Glycogen Storage Disease: Type III AGL 14 Glycogen Storage Disease: Type IV GBE1 3 Glycogen Storage Disease: Type V PYGM 10 Glycogen Storage Disease: Type VII PFKM 4 GM1-Gangliosidoses GLB1 17 GRACILE Syndrome BCS1L 12 Guanidinoacetate Methyltransferase Deficiency GAMT 4 Hemochromatosis: Type 2A: HFE2 Related HFE2 1 Hemochromatosis: Type 3: TFR2 Related TFR2 4 Hemoglobinopathy: Hb C HBB 1 Hemoglobinopathy: Hb D HBB 1 Hemoglobinopathy: Hb E HBB 1 Hemoglobinopathy: Hb O HBB 1 Hereditary Fructose Intolerance ALDOB 10 Hereditary Spastic Paraplegia: TECPR2 Related TECPR2 1 Herlitz Junctional Epidermolysis Bullosa: LAMA3 Related LAMA3 1 Herlitz Junctional Epidermolysis Bullosa: LAMB3 Related LAMB3 6 Page 4 of 9
5 Herlitz Junctional Epidermolysis Bullosa: LAMC2 Related LAMC2 1 Hermansky-Pudlak Syndrome: Type 1 HPS1 1 Hermansky-Pudlak Syndrome: Type 3 HPS3 4 Hermansky-Pudlak Syndrome: Type 4 HPS4 7 HMG-CoA Lyase Deficiency HMGCL 7 Holocarboxylase Synthetase Deficiency HLCS 7 Homocystinuria Caused by CBS Deficiency CBS 8 Hunter Syndrome IDS 7 Hurler Syndrome IDUA 8 Hypohidrotic Ectodermal Dysplasia: X-Linked EDA 5 Hypophosphatasia ALPL 5 Inclusion Body Myopathy: Type 2 GNE 3 Infantile Cerebral and Cerebellar Atrophy MED17 1 Isolated Microphthalmia: VSX2 Related VSX2 4 Isovaleric Acidemia IVD 1 Joubert Syndrome TMEM216 2 Juvenile Retinoschisis: X-Linked RS1 15 Lamellar Ichthyosis: Type 1 TGM1 1 Laryngoonychocutaneous Syndrome LAMA3 1 Leber Congenital Amaurosis: CEP290 Related CEP290 1 Leber Congenital Amaurosis: GUCY2D Related GUCY2D 3 Leber Congenital Amaurosis: LCA5 Related LCA5 3 Leber Congenital Amaurosis: RDH12 Related RDH12 6 Leigh Syndrome: French-Canadian LRPPRC 1 Leukoencephalopathy with Vanishing White Matter: EIF2B5 Related EIF2B5 9 Leydig Cell Hypoplasia (Luteinizing Hormone Resistance) LHCGR 13 Limb-Girdle Muscular Dystrophy: Type 2A CAPN3 6 Limb-Girdle Muscular Dystrophy: Type 2B DYSF 5 Limb-Girdle Muscular Dystrophy: Type 2C SGCG 4 Limb-Girdle Muscular Dystrophy: Type 2D SGCA 1 Limb-Girdle Muscular Dystrophy: Type 2E SGCB 6 Limb-Girdle Muscular Dystrophy: Type 2F SGCD 5 Limb-Girdle Muscular Dystrophy: Type 2I FKRP 1 Lipoprotein Lipase Deficiency LPL 1 Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency HADHA 2 Lowe Oculocerebrorenal Syndrome OCRL 3 Lysinuric Protein Intolerance SLC7A7 4 Malonyl-CoA Decarboxylase Deficiency MLYCD 5 Maple Syrup Urine Disease: Type 1A BCKDHA 4 Maple Syrup Urine Disease: Type 1B BCKDHB 6 Page 5 of 9
6 Maple Syrup Urine Disease: Type 2 DBT 15 Maple Syrup Urine Disease: Type 3 DLD 8 Maroteaux-Lamy Syndrome ARSB 6 Meckel Syndrome: Type 1 MKS1 5 Medium-Chain Acyl-CoA Dehydrogenase Deficiency ACADM 8 Megalencephalic Leukoencephalopathy MLC1 6 Metachromatic Leukodystrophy ARSA 18 Methylmalonic Acidemia: MMAA Related MMAA 14 Methylmalonic Acidemia: MMAB Related MMAB 11 Methylmalonic Acidemia: MUT Related MUT 23 Methylmalonic Aciduria and Homocystinuria: Type cblc MMACHC 5 Mitochondrial Complex I Deficiency: NDUFS6 Related NDUFS6 1 Mitochondrial DNA Depletion Syndrome: MNGIE Type TYMP 6 Mitochondrial Myopathy and Sideroblastic Anemia PUS1 2 Mitochondrial Trifunctional Protein Deficiency: HADHB Related HADHB 7 Morquio Syndrome: Type A GALNS 6 Morquio Syndrome: Type B GLB1 8 MTHFR Deficiency: Severe MTHFR 6 Mucolipidosis: Type II/III GNPTAB 3 Mucolipidosis: Type IV MCOLN1 5 Multiple Pterygium Syndrome CHRNG 6 Multiple Sulfatase Deficiency SUMF1 1 Muscle-Eye-Brain Disease POMGNT1 3 Myotubular Myopathy: X-Linked MTM1 23 Navajo Neurohepatopathy MPV17 1 Nemaline Myopathy: NEB Related NEB 2 Nephrotic Syndrome: Type 1 NPHS1 5 Nephrotic Syndrome: Type 2 NPHS2 27 Neuronal Ceroid-Lipofuscinosis: CLN5 Related CLN5 7 Neuronal Ceroid-Lipofuscinosis: CLN6 Related CLN6 9 Neuronal Ceroid-Lipofuscinosis: CLN8 Related CLN8 4 Neuronal Ceroid-Lipofuscinosis: MFSD8 Related MFSD8 2 Neuronal Ceroid-Lipofuscinosis: PPT1 Related PPT1 8 Neuronal Ceroid-Lipofuscinosis: TPP1 Related TPP1 9 Niemann-Pick Disease: Type A SMPD1 6 Niemann-Pick Disease: Type B SMPD1 3 Niemann-Pick Disease: Type C1 NPC1 14 Niemann-Pick Disease: Type C2 NPC2 11 Nijmegen Breakage Syndrome NBN 1 Nonsyndromic Hearing Loss and Deafness: GJB2 Related GJB2 29 Page 6 of 9
7 Nonsyndromic Hearing Loss and Deafness: LOXHD1 Related LOXHD1 2 Nonsyndromic Hearing Loss and Deafness: MYO15A Related MYO15A 10 Oculocutaneous Albinism: Type 1 TYR 27 Oculocutaneous Albinism: Type 3 TYRP1 6 Oculocutaneous Albinism: Type 4 SLC45A2 2 Omenn Syndrome: DCLRE1C Related DCLRE1C 1 Omenn Syndrome: RAG2 Related RAG2 1 Ornithine Transcarbamylase Deficiency OTC 11 Ornithine Translocase Deficiency SLC25A15 3 Osteopetrosis: TCIRG1 Related TCIRG1 6 Papillon-Lefevre Syndrome CTSC 11 Pendred Syndrome SLC26A4 7 Persistent Mullerian Duct Syndrome: Type I AMH 6 Persistent Mullerian Duct Syndrome: Type II AMHR2 14 Phenylalanine Hydroxylase Deficiency PAH 62 POLG Related Disorders: Autosomal Recessive POLG 16 Polyglandular Autoimmune Syndrome: Type I AIRE 5 Pontocerebellar Hypoplasia: EXOSC3 Related EXOSC3 4 Pontocerebellar Hypoplasia: RARS2 Related RARS2 3 Pontocerebellar Hypoplasia: SEPSECS Related SEPSECS 1 Pontocerebellar Hypoplasia: TSEN54 Related TSEN54 3 Pontocerebellar Hypoplasia: VPS53 Related VPS53 2 Pontocerebellar Hypoplasia: VRK1 Related VRK1 2 Primary Carnitine Deficiency SLC22A5 12 Primary Ciliary Dyskinesia: DNAI1 Related DNAI1 5 Primary Ciliary Dyskinesia: DNAI2 Related DNAI2 4 Primary Congenital Glaucoma CYP1B1 9 Primary Hyperoxaluria: Type 1 AGXT 11 Primary Hyperoxaluria: Type 2 GRHPR 3 Primary Hyperoxaluria: Type 3 HOGA1 2 Progressive Familial Intrahepatic Cholestasis: Type 2 ABCB11 5 Propionic Acidemia: PCCA Related PCCA 13 Propionic Acidemia: PCCB Related PCCB 13 Pseudocholinesterase Deficiency BCHE 1 Pycnodysostosis CTSK 2 Pyruvate Carboxylase Deficiency PC 15 Pyruvate Dehydrogenase Deficiency PDHB 2 Pyruvate Dehydrogenase Deficiency: X-Linked PDHA1 4 Renal Tubular Acidosis and Deafness ATP6V1B1 7 Retinal Dystrophies: RLBP1 Related RLBP1 3 Page 7 of 9
8 Retinal Dystrophies: RPE65 Related RPE65 12 Retinitis Pigmentosa: CERKL Related CERKL 5 Retinitis Pigmentosa: DHDDS Related DHDDS 1 Retinitis Pigmentosa: FAM161A Related FAM161A 5 Rhizomelic Chondrodysplasia Punctata: Type I PEX7 8 Salla Disease SLC17A5 5 Sandhoff Disease HEXB 14 Sanfilippo Syndrome: Type A SGSH 11 Sanfilippo Syndrome: Type B NAGLU 10 Sanfilippo Syndrome: Type C HGSNAT 13 Sanfilippo Syndrome: Type D GNS 5 SCID: X-Linked IL2RG 12 Short-Chain Acyl-CoA Dehydrogenase Deficiency ACADS 5 Sickle-Cell Anemia HBB 1 Sjogren-Larsson Syndrome ALDH3A2 2 Sly Syndrome GUSB 5 Smith-Lemli-Opitz Syndrome DHCR7 50 Spinal Muscular Atrophy: SMN1 Linked SMN1 19 Stargardt Disease ABCA4 17 Stuve-Wiedemann Syndrome LIFR 9 Sulfate Transporter-Related Osteochondrodysplasia SLC26A2 7 Tay-Sachs Disease HEXA 78 Trichohepatoenteric Syndrome: Type 1 TTC37 9 Tyrosine Hydroxylase Deficiency TH 1 Tyrosinemia: Type I FAH 10 Tyrosinemia: Type II TAT 5 Usher Syndrome: Type 1B MYO7A 13 Usher Syndrome: Type 1C USH1C 5 Usher Syndrome: Type 1D CDH23 15 Usher Syndrome: Type 1F PCDH15 7 Usher Syndrome: Type 2A USH2A 22 Usher Syndrome: Type 3 CLRN1 5 Very Long-Chain Acyl-CoA Dehydrogenase Deficiency ACADVL 30 Walker-Warburg Syndrome FKTN 5 Werner Syndrome WRN 8 Wilson Disease ATP7B 17 Wiskott-Aldrich Syndrome WAS 6 Wolcott-Rallison Syndrome EIF2AK3 5 Wolman Disease LIPA 3 Xeroderma Pigmentosum: Group A XPA 7 Page 8 of 9
9 Xeroderma Pigmentosum: Group C XPC 5 Zellweger Spectrum Disorders: PEX10 Related PEX10 2 Zellweger Spectrum Disorders: PEX1 Related PEX1 3 Zellweger Spectrum Disorders: PEX2 Related PEX2 1 Zellweger Spectrum Disorders: PEX6 Related PEX6 8 Learn More To learn more about our test, visit Recombine provides an all-inclusive service for comprehensive carrier screening. We cover everything from sample collection through genetic counseling. It is Genetic Testing. Simplified. Page 9 of 9
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