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All Children's Hospital, Clinical Molecular Genetics Laboratory

Disorder	Genes	Test Method	Lab Info	Product code
Septooptic Dysplasia - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	Septooptic Dysplasia	HESX1,			CODE: 1889	Add to Cart Add to Compare List
Spinal Muscular Atrophy (SMN1) - Targeted mutation analysis	All Children's Hospital, Clinical Molecular Genetics Laboratory	Spinal Muscular Atrophy (SMN1)	SMN1,	Targeted mutation analysis		CODE: 1890	Add to Cart Add to Compare List
Spinal Muscular Atrophy (SMN2) - Deletion/duplication analysis	All Children's Hospital, Clinical Molecular Genetics Laboratory	Spinal Muscular Atrophy (SMN2)	SMN2,			CODE: 1891	Add to Cart Add to Compare List
SRY-Related 46,XY DSD and 46,XY CGD - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	SRY-Related 46,XY DSD and 46,XY CGD	SRY,			CODE: 1892	Add to Cart Add to Compare List
Steroid 5-Alpha-Reductase Deficiency - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	Steroid 5-Alpha-Reductase Deficiency	SRD5A2,			CODE: 1893	Add to Cart Add to Compare List
TACR3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	TACR3-Related Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	TACR3,			CODE: 1894	Add to Cart Add to Compare List
Thiamine-Responsive Megaloblastic Anemia Syndrome - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	Thiamine-Responsive Megaloblastic Anemia Syndrome	SLC19A2,			CODE: 1895	Add to Cart Add to Compare List
Thyroid Hormone Resistance - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	Thyroid Hormone Resistance	THRB,			CODE: 1896	Add to Cart Add to Compare List
TPP1-Related Neuronal Ceroid-Lipofuscinosis - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	TPP1-Related Neuronal Ceroid-Lipofuscinosis				CODE: 1897	Add to Cart Add to Compare List
von Willebrand Disease - Sequence analysis of select exons	All Children's Hospital, Clinical Molecular Genetics Laboratory	von Willebrand Disease	VWF,	Sequence analysis of select exons		CODE: 1898	Add to Cart Add to Compare List
X-Linked Agammaglobulinemia - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	X-Linked Agammaglobulinemia	BTK,			CODE: 1899	Add to Cart Add to Compare List
X-Linked Centronuclear Myopathy - Sequence analysis of the entire coding region	All Children's Hospital, Clinical Molecular Genetics Laboratory	X-Linked Centronuclear Myopathy	MTM1,			CODE: 1900	Add to Cart Add to Compare List

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