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Results: 41 to 60 of 88

Tests names and labsConditionsGenes, analytes, and microbesMethods

Septo-optic Dysplasia Spectrum Panel

PreventionGenetics, part of Exact Sciences
United States
118
  • 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
149158
  • 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
223238
  • 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
128139
  • 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
96105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel

Invitae
United States
13081
  • D Deletion/duplication analysis

SOX2-Related Ocular Disorders via the SOX2 Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Neuro-ophthalmology panel. NGS panel of 38 genes.

Genologica Medica
Spain
7538
  • C Sequence analysis of the entire coding region

Septo-optic dysplasia panel. Panel NGS genes: HESX1, OTX2, PAX6, SOX2.

Genologica Medica
Spain
114
  • C Sequence analysis of the entire coding region

Gastrointestinal atresia panel. NGS panel of 13 genes.

Genologica Medica
Spain
1913
  • C Sequence analysis of the entire coding region

SOX2 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Combined Pituitary Hormone Deficiency Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1210
  • C Sequence analysis of the entire coding region

Comprehensive Short Stature Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
8260
  • C Sequence analysis of the entire coding region

Custom XomeDx Slice – Differences of Sex Development (Proband Only)

GeneDx
United States
21112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Female Infertility

Asper Biogene Asper Biogene LLC
Estonia
8564
  • C Sequence analysis of the entire coding region

Hearing Loss Test

GeneDx
United States
56150
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Microphthalmia, syndromic: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
1411
  • C Sequence analysis of the entire coding region

Kallmann Syndrome & Hypogonadotropic Hypogonadism NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3439
  • C Sequence analysis of the entire coding region

Congenital Cataracts NGS Panel

Fulgent Genetics
United States
10656
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 88

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.