List of CarrierCheck disorder: Top Choice in Selangor, Malaysia, Kuala Lumpur (KL), Bangi DNA Laboratories Sdn Bhd

Description

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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