Clinical and research tests for 4604 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Distal Arthrogryposis Panel Genetic Services Laboratory University of Chicago United States	12	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
MYBPC1 Gene Lethal congenital contracture syndrome type 4 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Neuromuscular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MYBPC1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal arthrogryposes Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	31	C Sequence analysis of the entire coding region T Targeted variant analysis
Distal arthrogryposes NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	31	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Distal arthrogryposes Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lethal congenital contracture syndrome and related disorders NGS Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	C Sequence analysis of the entire coding region T Targeted variant analysis
Lethal congenital contracture syndrome and related disorders Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States	13	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Arthrogryposis, distal, type 1B, 614335; DA1B (Digitotalar dysmorphism) (MYBPC1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Arthrogryposis, distal, type 1B, 614335; DA1B (Digitotalar dysmorphism) (MYBPC1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Lethal congenital contracture syndrome 4, 614915, Autosomal recessive; LCCS4 (Lethal congenital contracture syndrome type 3) (MYBPC1 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	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.