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Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service

Disorder	Genes	Test Method	Lab Info	Product code
Adrenoleukodystrophy, X-Linked - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Adrenoleukodystrophy, X-Linked	ABCD1,	Sequence analysis of the entire coding region		CODE: 28360	Add to Cart Add to Compare List
Alpha-Thalassemia - Targeted mutation analysis	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Alpha-Thalassemia	HBA1, HBA2, HBZ,	Targeted mutation analysis		CODE: 28361	Add to Cart Add to Compare List
Androgen Insensitivity Syndrome - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Androgen Insensitivity Syndrome	AR,	Sequence analysis of the entire coding region		CODE: 28362	Add to Cart Add to Compare List
Antithrombin-III Deficiency - Deletion/duplication analysis	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Antithrombin-III Deficiency	SERPINC1,	Deletion/duplication analysis		CODE: 28364	Add to Cart Add to Compare List
Antithrombin-III Deficiency - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Antithrombin-III Deficiency	SERPINC1,	Sequence analysis of the entire coding region		CODE: 28363	Add to Cart Add to Compare List
APC-Associated Polyposis Conditions - Deletion/duplication analysis	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	APC-Associated Polyposis Conditions	APC,	Deletion/duplication analysis		CODE: 28367	Add to Cart Add to Compare List
APC-Associated Polyposis Conditions - Linkage analysis	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	APC-Associated Polyposis Conditions	APC,	Linkage analysis		CODE: 28366	Add to Cart Add to Compare List
APC-Associated Polyposis Conditions - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	APC-Associated Polyposis Conditions	APC,	Sequence analysis of the entire coding region		CODE: 28365	Add to Cart Add to Compare List
Arginase Deficiency - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Arginase Deficiency	ARG1,	Sequence analysis of the entire coding region		CODE: 28368	Add to Cart Add to Compare List
Argininosuccinate Lyase Deficiency - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Argininosuccinate Lyase Deficiency	ASL,	Sequence analysis of the entire coding region		CODE: 28369	Add to Cart Add to Compare List
Beta-Thalassemia - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Beta-Thalassemia	HBB,	Sequence analysis of the entire coding region		CODE: 28370	Add to Cart Add to Compare List
Bruck Syndrome 2 - Sequence analysis of the entire coding region	Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service	Bruck Syndrome 2	PLOD2,	Sequence analysis of the entire coding region		CODE: 28371	Add to Cart Add to Compare List

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