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Results: 1 to 17 of 17

Tests names and labsConditionsGenes, analytes, and microbesMethods

Medullary cystic kidney disease 1, 174000, Autosomal dominant; MCKD1 (Autosomal dominant medullary cystic kidney disease with or without hyperuricemia) (MUC1 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

Medullary cystic kidney disease 1, 174000, Autosomal dominant; MCKD1 (Autosomal dominant medullary cystic kidney disease with or without hyperuricemia) (MUC1 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

Mucin-1 Kidney Disease allele testing

Broad Clinical Laboratories, LLC The Broad Institute Inc
United States
11
  • T Targeted variant analysis

GenepoweRx_Nephro_Care

GenepoweRx Uppaluri K&H Personalized Medicine Clinic
India
2758
  • D Deletion/duplication analysis
  • H Detection of homozygosity
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

MUC1 - 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

Hereditary Cystic Kidney Diseases Panel

PreventionGenetics, part of Exact Sciences
United States
4949
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polycystic kidney disease and related disorders Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
2922
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Polycystic kidney disease and related disorders Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
2922
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

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

Inherited Renal Disorders Panel

Dhiti Omics Technologies Private Ltd
India
7257
  • C Sequence analysis of the entire coding region

Expanded Polycystic Kidney Disease NGS Panel

Fulgent Genetics
United States
6134
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Kidney Dysplasia NGS Panel

Fulgent Genetics
United States
6841
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cystic Disease and Nephronopthisis panel

Clinical Genomics Laboratory Washington University in St. Louis
United States
1633
  • C Sequence analysis of the entire coding region

Hereditary Tubulopathy and Nephrolithiasis Panel

Genetic Services Laboratory University of Chicago
United States
1275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MUC1 Single Gene

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

Results: 1 to 17 of 17

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.