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Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis

Disorder	Genes	Test Method	Lab Info	Product code
Achondroplasia - Sequence analysis of the entire coding region	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	Achondroplasia	FGFR3,	Sequence analysis of the entire coding region		CODE: 19718	Add to Cart Add to Compare List
Acid-Labile Subunit Deficiency - Sequence analysis of the entire coding region	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	Acid-Labile Subunit Deficiency	IGFALS,	Sequence analysis of the entire coding region		CODE: 19719	Add to Cart Add to Compare List
Alpha-Sarcoglycanopathy - Deletion/duplication analysis	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	Alpha-Sarcoglycanopathy		Deletion/duplication analysis		CODE: 19721	Add to Cart Add to Compare List
Alpha-Sarcoglycanopathy - Sequence analysis of the entire coding region	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	Alpha-Sarcoglycanopathy		Sequence analysis of the entire coding region		CODE: 19720	Add to Cart Add to Compare List
Beta-Sarcoglycanopathy - Sequence analysis of the entire coding region	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	Beta-Sarcoglycanopathy		Sequence analysis of the entire coding region		CODE: 19722	Add to Cart Add to Compare List
CADASIL - Sequence analysis of select exons	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	CADASIL	NOTCH3,	Sequence analysis of select exons		CODE: 19723	Add to Cart Add to Compare List
Calpainopathy - Deletion/duplication analysis	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	Calpainopathy		Deletion/duplication analysis		CODE: 19725	Add to Cart Add to Compare List
Calpainopathy - Sequence analysis of the entire coding region	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	Calpainopathy		Sequence analysis of the entire coding region		CODE: 19724	Add to Cart Add to Compare List
CLN3-Related Neuronal Ceroid-Lipofuscinosis - Deletion/duplication analysis	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	CLN3-Related Neuronal Ceroid-Lipofuscinosis		Deletion/duplication analysis		CODE: 19727	Add to Cart Add to Compare List
CLN3-Related Neuronal Ceroid-Lipofuscinosis - Sequence analysis of the entire coding region	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	CLN3-Related Neuronal Ceroid-Lipofuscinosis		Sequence analysis of the entire coding region		CODE: 19726	Add to Cart Add to Compare List
CREBBP-Related Rubinstein-Taybi Syndrome - Deletion/duplication analysis	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	CREBBP-Related Rubinstein-Taybi Syndrome	CREBBP,	Deletion/duplication analysis		CODE: 19729	Add to Cart Add to Compare List
CREBBP-Related Rubinstein-Taybi Syndrome - Sequence analysis of the entire coding region	Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis	CREBBP-Related Rubinstein-Taybi Syndrome	CREBBP,	Sequence analysis of the entire coding region		CODE: 19728	Add to Cart Add to Compare List

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