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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

Comprehensive Nephrology Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1299
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Genomic Unity® Hearing Loss Disorders Analysis

Variantyx, Inc.
United States
1318
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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

Genomic Unity® Renal Disorders Analysis

Variantyx, Inc.
United States
1425
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Epidermolysis bullosa (WES based NGS panel of 23 genes, including analysis of CNVs)

CGC Genetics Unilabs
Portugal
123
  • C Sequence analysis of the entire coding region

Idiopathic renal failure on young (NGS panel of 173 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1173
  • C Sequence analysis of the entire coding region

Nephrology Panel 

CGC Genetics Unilabs
Portugal
1334
  • C Sequence analysis of the entire coding region

Epidermolyisis Bullosa Panel

Mendelics
Brazil
125
  • C Sequence analysis of the entire coding region

NEPHROTIC SYNDROME EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
189
  • E Sequence analysis of select exons

Alport Syndrome Panel

GeneDx
United States
16
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Inherited Loss of Hearing Panel

Dhiti Omics Technologies Private Ltd
India
8179
  • 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

Results: 1 to 20 of 43

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.