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Results: 1 to 20 of 23

Tests names and labsConditionsGenes, analytes, and microbesMethods

Congenital Heart Disease Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan Syndrome and Related Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1520
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

OtoSCOPE v9

Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics
United States
288218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Brain Malformation Panel

PreventionGenetics, part of Exact Sciences
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cortical Malformations and Epilepsy Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
3538
  • C Sequence analysis of the entire coding region

Baraitser-Winter syndrome (sequence analysis of ACTG1 gene)

CGC Genetics Unilabs
Portugal
11
  • 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

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Noonan and RASopathies NGS Panel

Fulgent Genetics
United States
23526
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cerebral Cortical Malformation NGS Panel

Fulgent Genetics
United States
21042
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel

Fulgent Genetics
United States
24478
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Baraitser-Winter Cerebrofrontofacial Syndrome: gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
32
  • C Sequence analysis of the entire coding region

Nevus Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
2628
  • C Sequence analysis of the entire coding region

ACTB Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Somatic Overgrowth Panel with interpretation

Clinical Genomics Laboratory Washington University in St. Louis
United States
82114
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 23

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.