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Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust

Disorder	Genes	Test Method	Lab Info	Product code
3-Methylglutaconic Aciduria Type 2 - Sequence analysis of the entire coding region	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	3-Methylglutaconic Aciduria Type 2	TAZ,	Sequence analysis of the entire coding region		CODE: 29032	Add to Cart Add to Compare List
Ataxia-Telangiectasia - Chromosome breakage studies	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Ataxia-Telangiectasia	ATM,	Chromosome breakage studies		CODE: 29033	Add to Cart Add to Compare List
Axenfeld-Rieger Syndrome, Type 1 - Deletion/duplication analysis	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Axenfeld-Rieger Syndrome, Type 1	PITX2,	Deletion/duplication analysis		CODE: 29035	Add to Cart Add to Compare List
Axenfeld-Rieger Syndrome, Type 1 - Sequence analysis of the entire coding region	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Axenfeld-Rieger Syndrome, Type 1	PITX2,	Sequence analysis of the entire coding region		CODE: 29034	Add to Cart Add to Compare List
Axenfeld-Rieger Syndrome, Type 3 - Deletion/duplication analysis	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Axenfeld-Rieger Syndrome, Type 3	FOXC1,	Deletion/duplication analysis		CODE: 29037	Add to Cart Add to Compare List
Axenfeld-Rieger Syndrome, Type 3 - Sequence analysis of the entire coding region	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Axenfeld-Rieger Syndrome, Type 3	FOXC1,	Sequence analysis of the entire coding region		CODE: 29036	Add to Cart Add to Compare List
Bloom's Syndrome - Sister chromatid exchange	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Bloom's Syndrome	BLM,	Sister chromatid exchange		CODE: 29038	Add to Cart Add to Compare List
BSCL2-Related Neurologic Disorders/Seipinopathy - Sequence analysis of select exons	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	BSCL2-Related Neurologic Disorders/Seipinopathy	BSCL2,	Sequence analysis of select exons		CODE: 29039	Add to Cart Add to Compare List
Charcot-Marie-Tooth Neuropathy Type 1A - Targeted mutation analysis	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Charcot-Marie-Tooth Neuropathy Type 1A	PMP22,	Targeted mutation analysis		CODE: 29040	Add to Cart Add to Compare List
Charcot-Marie-Tooth Neuropathy Type 1B - Sequence analysis of the entire coding region	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Charcot-Marie-Tooth Neuropathy Type 1B	MPZ,	Sequence analysis of the entire coding region		CODE: 29041	Add to Cart Add to Compare List
Charcot-Marie-Tooth Neuropathy Type 1C - Sequence analysis of the entire coding region	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Charcot-Marie-Tooth Neuropathy Type 1C		Sequence analysis of the entire coding region		CODE: 29042	Add to Cart Add to Compare List
Charcot-Marie-Tooth Neuropathy Type 1D - Sequence analysis of the entire coding region	Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust	Charcot-Marie-Tooth Neuropathy Type 1D		Sequence analysis of the entire coding region		CODE: 29043	Add to Cart Add to Compare List

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