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Results: 21 to 40 of 77

Tests names and labsConditionsGenes, analytes, and microbesMethods

Branchiootorenal Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Branchiootorenal Syndrome via the SIX5 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

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

Clefting (WES based NGS panel of 231 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
1231
  • C Sequence analysis of the entire coding region

Congenital anomalies of the kidney and urinary tract (CAKUT) (NGS panel for 65 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
165
  • 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

Branchiootorenal syndrome (NGS panel of 3 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
13
  • C Sequence analysis of the entire coding region

Nephrology Panel 

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

Deafness or hypoacusis panel_v.2.0

CGC Genetics Unilabs
Portugal
1272
  • C Sequence analysis of the entire coding region

Síndrome branquio-oto-renal (deletion/duplication analysis of SIX5 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Branchiootorenal syndrome 2 (sequence analysis of SIX5 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Clinically Recognized Syndromes Panel

Mendelics
Brazil
1236
  • C Sequence analysis of the entire coding region

Hereditary Deafness Panel (Expanded)

Mendelics
Brazil
1104
  • C Sequence analysis of the entire coding region

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT (CAKUT) EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
177
  • E Sequence analysis of select exons

Inherited Loss of Hearing Panel

Dhiti Omics Technologies Private Ltd
India
8179
  • C Sequence analysis of the entire coding region

Branchial-Oto-Renal Syndrome Panel. Panel NGS genes: EYA1, SIX1, SIX5, TFAP2A.

Genologica Medica
Spain
74
  • C Sequence analysis of the entire coding region

Kabuki syndrome panel. 7-gene NGS panel.

Genologica Medica
Spain
167
  • C Sequence analysis of the entire coding region

Renal malformation panel. NGS panel of 22 genes.

Genologica Medica
Spain
4422
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Prenatal Known Familial Mutation

GeneDx
United States
11716
  • D Deletion/duplication analysis
  • T Targeted variant analysis

Results: 21 to 40 of 77

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.