Clinical and research tests for C0162361 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 43

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
GJB6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CLOUSTON SYNDROME (Hidrotic ectodermal dysplasia) (GJB6 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
Ectodermal dysplasia 2, Clouston type, 129500, Autosomal dominant (Hidrotic ectodermal dysplasia) (GJB6 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
Ectodermal dysplasia 2, Clouston type, 129500, Autosomal dominant (Hidrotic ectodermal dysplasia) (GJB6 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
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	211	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
Deafness, Autosomal Dominant 3B (DFNA3B) and Deafness, Autosomal Recessive 1B (DFNB1B) via the GJB6 Gene PreventionGenetics United States	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ectodermal dysplasia panel. 23-gene NGS panel. Genologica Medica Spain	60	23	C Sequence analysis of the entire coding region
Autosomal Dominant Hearing Loss. 25-gene NGS panel. Genologica Medica Spain	48	23	C Sequence analysis of the entire coding region
Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain	146	94	C Sequence analysis of the entire coding region
Palmoplantar keratoderma panel. 25-gene NGS panel. Genologica Medica Spain	62	25	C Sequence analysis of the entire coding region
Autosomal recessive hearing loss. 41-gene NGS panel. Genologica Medica Spain	65	41	C Sequence analysis of the entire coding region
Hearing Loss Test GeneDx United States	56	150	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Hearing Loss, Comprehensive Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	142	84	C Sequence analysis of the entire coding region
Hearing Loss, Connexin Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	10	2	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
GJB6 Institute for Human Genetics University Medical Center Freiburg Germany	4	1	C Sequence analysis of the entire coding region
Ectodermal dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	11	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

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 43

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.