Clinical and research tests for C0268297 - 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 27

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Disorders of Sex Development Panel Labcorp Genetics (formerly Invitae) LabCorp United States	88	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Pseudovaginal perineoscrotal hypospadias, 264600, Autosomal recessive; PPSH (46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pseudovaginal perineoscrotal hypospadias, 264600, Autosomal recessive; PPSH (46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency) (SRD5A2 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 Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Ambiguous Genitalia Panel PreventionGenetics, part of Exact Sciences United States	128	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States	149	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States	223	238	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Male Infertility Panel PreventionGenetics, part of Exact Sciences United States	128	139	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Female Infertility Panel PreventionGenetics, part of Exact Sciences United States	96	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qGenEx Sex development disorders Quantitative Genomic Medicine Laboratories, SL Spain	45	48	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
5 Alpha Reductase deletion/duplication analysis Duzen Laboratories Duzen BBAGUAS Turkey	1	1	D Deletion/duplication analysis
5 Alpha Reductase Deficiency (Whole Gene Sequence Analysis) Duzen Laboratories Duzen BBAGUAS Turkey	1	1	C Sequence analysis of the entire coding region
Male Infertility NGS Panel Fulgent Genetics United States	79	45	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infertility NGS Panel Fulgent Genetics United States	92	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Female Infertility NGS Panel Fulgent Genetics United States	76	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
5-Alpha Reductase Deficiency (SRD5A2 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nonsyndromic disorders of sexual development: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	17	12	C Sequence analysis of the entire coding region
5-ALPHA REDUCTASE DEFICIENCY (MALE PSEUDOHERMAFRODISTISM) Laboratorio de Genetica Clinica SL Spain	1	1	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 27

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.