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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

Genomic Unity® Lightning Genome Analysis – Standard

Variantyx, Inc.
United States
11
  • C Sequence analysis of the entire coding region

HPSE2 Gene Urofacial syndrome type 1 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Comprehensive Nephrology Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1299
  • 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

HPSE2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Congenital Anomalies of Kidney and Urinary Tract (CAKUT) Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
6741
  • D Deletion/duplication analysis

Urofacial syndrome 1, 236730, Autosomal recessive; UFS1 (Ochoa syndrome) (HPSE2 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

Urofacial syndrome 1, 236730, Autosomal recessive; UFS1 (Ochoa syndrome) (HPSE2 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

Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel

PreventionGenetics, part of Exact Sciences
United States
8278
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Urofacial Syndrome 1 via the HPSE2 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

Urofacial syndrome (WES based NGS panel of 2 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
12
  • 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

Nephrology Panel 

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

Ochoa syndrome (deletion/duplication analysis on HPSE2 gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Ochoa syndrome (sequence of HPSE2 gene )

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

Results: 1 to 20 of 31

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.