Clinical and research tests for C1837203 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 40

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Otogenetics United States	123	129	E Sequence analysis of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
SNAI2 - NGS including CNV analysis Centogene US, LLC - The Rare Disease Company United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SNAI2 - 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
Invitae Hypopigmentation Panel Invitae United States	83	46	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (SNAI2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (SNAI2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	C Sequence analysis of the entire coding region
Waardenburg syndrome, type 2D, 608890, Autosomal recessive; WS2D (Waardenburg syndrome type 2) (Prenatal) (MLPA) Intergen Genetic Diagnosis and Research Centre Turkey	1	1	D Deletion/duplication analysis
Hereditary Hearing Loss and Deafness Panel PreventionGenetics United States	356	209	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypopigmentation Panel PreventionGenetics United States	39	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Waardenburg syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	8	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg syndrome NGS panel HNL Genomics Connective Tissue Gene Tests United States	8	7	C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg Syndrome Panel PreventionGenetics United States	12	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg Syndrome Type IID via the SNAI2 Gene PreventionGenetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Waardenburg Syndrome (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	10	7	C Sequence analysis of the entire coding region
Piebaldism (deletion/duplication analysis of KIT and SNAI2 genes) Unilabs Genetics CGC Genetics Portugal	6	2	D Deletion/duplication analysis
Waardenburg syndrome type 2D (deletion/duplication anlaysis on SNAI2 gene) Unilabs Genetics CGC Genetics Portugal	2	1	D Deletion/duplication analysis

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 40

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.