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Appendix: CarrierCheck Diseases Detected Description

This test contains over 172 disorders, as described in the following table:

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No. Disease Name Gene
1 Wilson Disease ATP7B
2 Primary Carnitine Deficiency SLC22A5
3 Phenylketonuria PAH
4 Hyperphenylalaninemia, BH4-deficient, A PTS
5 MUT-Related Methylmalonic Acidemia MUT
6 MMAA-Related Methylmalonic Acidemia MMAA
7 MMAB-Related Methylmalonic Acidemia MMAB
8 Methylmalonic Aciduria and Homocystinuria cblC type MMACHC
9 Methylmalonic Aciduria and Homocystinuria cblD type MMADHC
10 Homocystinuria-megaloblastic anemia cblE type MTRR
11 Homocystinuria-Megaloblastic Anemia cblG type MTR
12 MCEE-Related Methylmalonic Acidemia MCEE
13 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency CBS
14 Glutaric Acidemia I GCDH
15 Glutaric acidemia IIA ETFA
16 Glutaric acidemia IIB ETFB
17 Glutaric acidemia IIC ETFDH
18 Acyl-CoA Dehydrogenase Deficiency,Medium-Chain ACADM
19 Acyl-CoA Dehydrogenase Deficiency,Short-Chain ACADS
20 Acyl-CoA Dehydrogenase Deficiency,Very Long-Chain ACADVL
21 3-Methylcrotonyl-CoA carboxylase 1 deficiency MCCC1
22 3-Methylcrotonyl-CoA carboxylase 2 deficiency MCCC2
23 Citrullinemia ASS1
24 Isovaleric Acidemia IVD
25 Propionicacidemia PCCA, PCCB
26 Glycogen Storage Disease Type Ia G6PC
27 Glycogen Storage Disease Type Ib SLC37A4
28 Glycogen Storage Disease Type Ic SLC37A4
29 Glycogen Storage Disease Type II GAA
30 Glycogen Storage Disease type IV GBE1
31 Niemann-Pick Disease Type A SMPD1
32 Niemann-Pick Disease Type B SMPD1
33 Niemann-Pick Disease Type C1 NPC1
34 Niemann-Pick Disease Type C2 NPC2
35 Maple Syrup Urine Disease Type 1A BCKDHA
36 Maple Syrup Urine Disease Type 1B BCKDHB
37 Maple Syrup Urine Disease, type 2 DBT
38 Maple Syrup Urine Disease Type 3 DLD
39 Hurler Syndrome IDUA
40 Hurler-Scheie Syndrome IDUA
41 Mucopolysaccharidosis type V IDUA
42 Mucopolysaccharidosis II IDS
43 Mucopolysaccharidosis Type IIIA SGSH
44 Mucopolysaccharidosis Type IIIB NAGLU
45 Mucopolysaccharidosis type IIIC HGSNAT
46 Mucopolysaccharidosis type IIID GNS
47 Mucopolysaccharidosis type IVA GALNS
48 Mucopolysaccharidosis type IVB GLB1
49 Mucopolysaccharidosis type VI ARSB
50 Tyrosinemia Type 1 FAH
51 Fabry Disease GLA
52 Biotinidase Deficiency BTD
53 Holocarboxylase synthetase deficiency HLCS
54 Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome SLC25A15
55 Carbamoylphosphate Synthetase I Deficiency CPS1
56 Ornithine Transcarbamylase Deficiency OTC
57 Argininosuccinic aciduria ASL
58 Glycine encephalopathy AMT, GLDC
59 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency HMGCS2
60 Congenital Disorders of Glycosylation Ia PMM2
61 Peroxisome biogenesis disorder 1A(Zellweger) PEX1
62 Krabbe Disease GALC
63 Familial Hyperinsulinemic Hypoglycemia 2 KCNJ11
64 Familial Hyperinsulinemic Hypoglycemia 4 HADH
65 Hypophosphatasia, infantile ALPL
66 Hypophosphatasia, childhood ALPL
67 Metachromatic Leukodystrophy due to Arylsulfatase A ARSA
68 Galactosemia GALT
69 Alpha-Mannosidosis MAN2B1
70 Beta-Ketothiolase Deficiency ACAT1
71 Adenosine Deaminase Deficiency ADA
72 Sitosterolemia ABCG5, ABCG8
73 Molybdenum Cofactor Deficiency A MOCS1
74 Hereditary Fructose Intolerance ALDOB
75 Tay-Sachs Disease HEXA
76 Smith-Lemli-Opitz syndrome DHCR7
77 Duchenne Muscular Dystrophy DMD
78 Spinal Muscular Atrophy SMN1
79 Joubert Syndrome 2 TMEM216
80 Joubert Syndrome 3 AHI1
81 Joubert Syndrome 5 CEP290
82 Joubert Syndrome 6 TMEM67
83 Joubert Syndrome 9 CC2D2A
84 Joubert Syndrome 17 C5orf42
85 X-Linked Centronuclear Myopathy MTM1
86 Neuronal Ceroid-Lipofuscinoses 1 PPT1
87 Neuronal Ceroid-Lipofuscinoses 2 TPP1
88 Neuronal Ceroid-Lipofuscinoses 3 CLN3
89 Neuronal Ceroid-Lipofuscinoses 4A CLN6
90 Neuronal Ceroid-Lipofuscinoses 5 CLN5
91 Neuronal Ceroid-Lipofuscinoses 6 CLN6
92 Neuronal Ceroid-Lipofuscinoses 7 MFSD8
93 Limb-Girdle Muscular Dystrophy type 2A CAPN3
94 Limb-Girdle Muscular Dystrophy type 2B DYSF
95 Limb-Girdle Muscular Dystrophy type 2C SGCG
96 Limb-Girdle Muscular Dystrophy type 2D SGCA
97 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 MLC1
98 Canavan Disease ASPA
99 Autosomal Recessive Osteopetrosis 1 TCIRG1
100 Oculocutaneous Albinism Type 1 TYR
101 Oculocutaneous Albinism Type 2 OCA2
102 Oculocutaneous Albinism Type 3 TYRP1
103 Oculocutaneous Albinism Type 4 SLC45A2
104 Oculocutaneous Albinism Type 6 SLC24A5
105 Oculocutaneous Albinism Type 7 C10orf11
106 X-Linked Ocular Albinism GPR143
107 Hermansky-Pudlak Syndrome 1 HPS1
108 Hermansky-Pudlak Syndrome 3 HPS3
109 Autosomal Recessive Congenital Ichthyosis 1 TGM1
110 Autosomal Recessive Congenital Ichthyosis 4A ABCA12
111 Autosomal Recessive Congenital Ichthyosis 4B ABCA12
112 Netherton syndrome SPINK5
113 Sjögren-Larsson syndrome ALDH3A2
114 LAMA3-Related Junctional Epidermolysis Bullosa LAMA3
115 LAMB3-Related Junctional Epidermolysis Bullosa LAMB3
116 LAMC2-Related Junctional Epidermolysis Bullosa LAMC2
117 Non-Herlitz type Junctional Epidermolysis Bullosa COL17A1
118 Autosomal Recessive Epidermolysis Bullosa Dystrophica COL7A1
119 Hemophilia B F9
120 Alpha-thalassemia HBA1, HBA2
121 Beta-thalassemia HBB
122 Sickle Cell Anemia HBB
123 Fanconi anemia, complementation group A FANCA
124 Fanconi anemia, complementation group C FANCC
125 Fanconi anemia, complementation group D2 FANCD2
126 Fanconi anemia, complementation group G FANCG
127 Fanconi anemia, complementation group I FANCI
128 Hemophagocytic lymphohistiocytosis, familial, 2 PRF1
129 Hemophagocytic lymphohistiocytosis, familial, 3 UNC13D
130 Hemophagocytic lymphohistiocytosis, familial, 4 STX11
131 Hemophagocytic lymphohistiocytosis, familial, 5 STXBP2
132 Omenn syndrome RAG1, RAG2
133 Severe combined immunodeficiency, B cell-negative RAG1, RAG2
134 X-Linked Severe Combined Immunodeficiency IL2RG
135 X-Linked Adrenal Hypoplasia Congenita NR0B1
136 Progressive Familial Intrahepatic Cholestasis 2 ABCB11
137 Progressive Familial Intrahepatic Cholestasis 3 ABCB4
138 Progressive Familial Intrahepatic Cholestasis 4 TJP2
139 Alport syndrome 2, autosomal recessive COL4A3, COL4A4
140 Nephrotic syndrome, type 1 NPHS1
141 Nephronophthisis 3 NPHP3
142 Nephronophthisis 11 TMEM67
143 Nephropathic Cystinosis CTNS
144 Cystic Fibrosis CFTR
145 Autosomal Recessive Deafness 1A GJB2
146 Autosomal Recessive Deafness 4, with Enlarged Vestibular Aqueduct SLC26A4
147 Wolfram Syndrome 1 WFS1
148 Ellis-van Creveld Syndrome EVC2
149 Osteoporosis-pseudoglioma syndrome LRP5
150 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DNMT3B
151 Meckel Syndrome 2 TMEM216
152 Meckel Syndrome 3 TMEM67
153 Meckel Syndrome 4 CEP290
154 X-Linked Hypohidrotic Ectodermal Dysplasia EDA
155 COACH syndrome TMEM67, CC2D2A
156 Nemaline myopathy 2 NEB
157 Aspartylglucosaminuria AGA
158 Polycystic kidney disease PKHD1
159 Familial dysautonomia IKBKAP
160 Tyrosine hydroxylase deficiency TH
161 Ataxia-telangiectasia ATM
162 Alpha-1 antitrypsin deficiency SERPINA1
163 Spastic paraplegia 11, autosomal recessive SPG11
164 Bloom syndrome BLM
165 Familial Mediterranean fever MEFV
166 Gitelman syndrome SLC12A3
167 Galactokinase deficiency GALK1
168 Mucolipidosis IV MCOLN1
169 Glucose-6-phosphate dehydrogenase deficiency G6PD
170 Argininemia ARG1
171 Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency HADHA
172 Trifunctional Protein Deficiency HADH, HADHB
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