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Results: 1 to 20 of 27

Tests names and labsConditionsGenes, analytes, and microbesMethods

RAB33A Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoHear Panel

Centogene AG - the Rare Disease Company
Germany
203194
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epidermolysis Bullosa and Palmoplantar Keratoderma Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9545
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
405219
  • D Deletion/duplication analysis

Invitae Alport Syndrome Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
96
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome) (CD151 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome) (CD151 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Progressive Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
310195
  • D Deletion/duplication analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

Alport syndrome panel. 6-gene NGS panel.

Genologica Medica
Spain
96
  • C Sequence analysis of the entire coding region

Nephropathy with pretibial epidermolysis bullosa and deafness

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

Epidermolysis Bullosa

Asper Biogene Asper Biogene LLC
Estonia
4825
  • C Sequence analysis of the entire coding region

CD151

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Comprehensive Glomerular Proteinuria NGS Panel

Fulgent Genetics
United States
18276
  • D Deletion/duplication analysis
  • 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

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics
United States
249181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genetic Epidermolyses and blistering disorders Panel

CeGaT GmbH
Germany
2319
  • C Sequence analysis of the entire coding region

CD151 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

Epilepsy

MGZ Medical Genetics Center
Germany
17212
  • C Sequence analysis of the entire coding region

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.