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National Health Laboratory Services, Inherited Metabolic Diseases

Disorder	Genes	Test Method	Lab Info	Product code
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia	CYP21A2,			CODE: 22305	Add to Cart Add to Compare List
3-Methylglutaconic Aciduria Type 2 - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	3-Methylglutaconic Aciduria Type 2	TAZ,			CODE: 22306	Add to Cart Add to Compare List
Alpha1-Antitrypsin Deficiency - Targeted mutation analysis	National Health Laboratory Services, Inherited Metabolic Diseases	Alpha1-Antitrypsin Deficiency	SERPINA1,	Targeted mutation analysis		CODE: 22307	Add to Cart Add to Compare List
Androgen Insensitivity Syndrome - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	Androgen Insensitivity Syndrome	AR,			CODE: 22308	Add to Cart Add to Compare List
Carnitine Palmitoyltransferase II Deficiency - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	Carnitine Palmitoyltransferase II Deficiency	CPT2,			CODE: 22309	Add to Cart Add to Compare List
Glutaricacidemia Type 1 - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases					CODE: 22310	Add to Cart Add to Compare List
Glutaricacidemia Type 1 - Targeted mutation analysis	National Health Laboratory Services, Inherited Metabolic Diseases			Targeted mutation analysis		CODE: 22311	Add to Cart Add to Compare List
Glutathione Synthetase Deficiency - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases					CODE: 22312	Add to Cart Add to Compare List
Leigh Syndrome (nuclear DNA mutation) - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	Leigh Syndrome (nuclear DNA mutation)	BCS1L, COX10, DLD, MTFMT, NDUFA1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS1, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, SCO1, SDHA, SURF1,			CODE: 22313	Add to Cart Add to Compare List
Lesch-Nyhan Syndrome - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	Lesch-Nyhan Syndrome	HPRT1,			CODE: 22314	Add to Cart Add to Compare List
Ornithine Transcarbamylase Deficiency - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	Ornithine Transcarbamylase Deficiency	OTC,			CODE: 22315	Add to Cart Add to Compare List
POLG-Related Disorders - Sequence analysis of the entire coding region	National Health Laboratory Services, Inherited Metabolic Diseases	POLG-Related Disorders	POLG,			CODE: 22316	Add to Cart Add to Compare List

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