Clinical and research tests for 255845 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Facioscapulohumeral muscular dystrophy MGZ Medical Genetics Center Germany	2	7	D Deletion/duplication analysis M Methylation analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Syndromal Diseases - panels MGZ Medical Genetics Center Germany	14	342	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Panel on demand MGZ Medical Genetics Center Germany	25	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Cancer Syndromes - panels MGZ Medical Genetics Center Germany	6	100	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mental Retardation and Dysmorphology - panels MGZ Medical Genetics Center Germany	15	343	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neurogenetic Disorders - panels MGZ Medical Genetics Center Germany	14	597	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hepatic and pancreatic diseases - panels MGZ Medical Genetics Center Germany	4	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nephrology Endocrinology and Electrolytes - panels MGZ Medical Genetics Center Germany	5	117	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Vascular and connective tissue diseases - panels MGZ Medical Genetics Center Germany	3	67	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Eye Diseases - panels MGZ Medical Genetics Center Germany	6	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pulmonary diseases - panels MGZ Medical Genetics Center Germany	3	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Heart Diseases - panels MGZ Medical Genetics Center Germany	4	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KMT2A MGZ Medical Genetics Center Germany	1	1	C Sequence analysis of the entire coding region
SYT2 MGZ Medical Genetics Center Germany	1	1	S Mutation scanning of the entire coding region
RNF43 MGZ Medical Genetics Center Germany	3	1	C Sequence analysis of the entire coding region
CUL4B MGZ Medical Genetics Center Germany	2	1	C Sequence analysis of the entire coding region
PKHD1 MGZ Medical Genetics Center Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PKD1 - Polycystic Kidney Disease MGZ Medical Genetics Center Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TH dystonia MGZ Medical Genetics Center Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GCH1 - dystonia MGZ Medical Genetics Center Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.