Clinical and research tests for 55806 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
HR Gene Alopecia universalis NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HR Gene Hypotrichosis type 4 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HR Gene Atrichia with papular lesions NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HR - 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
CentoSkin Panel Centogene AG - the Rare Disease Company Germany	157	151	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypotrichosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atrichia with papular lesions, 209500, Autosomal recessive; APL (Atrichia with papular lesions) (HR 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
Hypotrichosis 4, 146550, Autosomal dominant; HYPT4 (Marie Unna hereditary hypotrichosis) (HR 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
Alopecia universalis, 203655, Autosomal recessive; ALUNC (Alopecia universalis) (HR 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
Alopecia universalis congenita and Atrichia with papular lesions NGS Test HNL Genomics Connective Tissue Gene Tests United States	2	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Alopecia universalis congenita and Atrichia with papular lesions Deletion / Duplication Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Alopecia universalis congenita and Atrichia with papular lesions Comprehensive Test HNL Genomics Connective Tissue Gene Tests United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypotrichosis NGS panel HNL Genomics Connective Tissue Gene Tests United States	10	10	C Sequence analysis of the entire coding region T Targeted variant analysis
Hypotrichosis Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	10	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Ectodermal dysplasia (WES based NGS panel of 42 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	42	C Sequence analysis of the entire coding region
Hypotrichosis (WES based NGS panel of 10 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	10	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.