Clinical and research tests for C2673759 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 148

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Congenital Ichthyosis Panel Invitae United States	77	45	D Deletion/duplication analysis
Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel Invitae United States	95	45	D Deletion/duplication analysis
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
GJB2 Regulatory Element Deletion Testing (GJB6-D13S1830 and GJB6-D13S1854) PreventionGenetics, part of Exact Sciences United States	7	1	T Targeted variant analysis
Deafness, digenic, GJB2/GJB3, 220290, Autosomal recessive, Digenic dominant (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Deafness, digenic, GJB2/GJB3, 220290, Autosomal recessive, Digenic dominant (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (GJB3 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
Deafness, digenic GJB2/GJB6, 220290, Autosomal recessive, Digenic dominant (Autosomal recessive non-syndromic sensorineural deafness type DFNB) (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
Deafness, autosomal recessive 1A, 220290, Autosomal recessive, Digenic dominant (DFNB) (GJB2 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
Invitae Broad Carrier Screen without X-linked Disorders Invitae United States	195	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Broad Carrier Screen Invitae United States	224	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GJB2-Related DFNB1 Nonsyndrome Hearing Loss and Deafness Myriad Genetics, Inc. United States	1	1	C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
GJB2/GJB6 Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States	5	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	342	268	C Sequence analysis of the entire coding region
GJB6 (Connexin-30) copy number variation for hearing loss Molecular Diagnostics Children's Hospital of Wisconsin United States	2	1	D Deletion/duplication analysis
Hearing Loss Panel Molecular Diagnostics Children's Hospital of Wisconsin United States	9	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	328	300	C Sequence analysis of the entire coding region
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
Deafness, Autosomal Dominant 2B (DFNA2B) via the GJB3 Gene PreventionGenetics, part of Exact Sciences United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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Results: 21 to 40 of 148

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.

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Results: 21 to 40 of 148

Results: 21 to 40 of 148