Clinical and research tests for C0268136 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ERCC3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Xeroderma pigmentosum, group B, 610651, Autosomal recessive (Xeroderma pigmentosum) (ERCC3 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
Xeroderma pigmentosum, group B, 610651, Autosomal recessive (Xeroderma pigmentosum) (ERCC3 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
Skin and Connective Tissue Disorders Panel PreventionGenetics United States	125	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeroid syndromes and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	21	21	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Progeroid syndromes and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	21	21	C Sequence analysis of the entire coding region T Targeted variant analysis
Xeroderma pigmentosum Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Xeroderma pigmentosum NGS panel HNL Genomics Connective Tissue Gene Tests United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Xeroderma pigmentosum Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	9	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Xeroderma Pigmentosum Panel PreventionGenetics United States	11	9	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Xeroderma Pigmentosum via the ERCC3 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dermatological. Full panel Genologica Medica Spain	123	68	C Sequence analysis of the entire coding region
Xeroderma pigmentosum panel Genologica Medica Spain	15	9	C Sequence analysis of the entire coding region
Genital Abnormalities / Sex Development Disorders Panel Genologica Medica Spain	95	49	C Sequence analysis of the entire coding region
Ichthyosis Asper Biogene Asper Biogene LLC Estonia	67	47	C Sequence analysis of the entire coding region
ERCC3 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Comprehensive Hearing Loss NGS Panel Fulgent Genetics United States	332	167	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ichthyosis NGS Panel Fulgent Genetics United States	98	43	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	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.