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Results: 1 to 20 of 105

Tests names and labsConditionsGenes, analytes, and microbesMethods

WDR48 Gene SPG60, WDR48 related NGS Genetic DNA Test

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

AMPD2 Gene SPG63 NGS Genetic DNA Test

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

ENTPD1 Gene SPG64 NGS Genetic DNA Test

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

ATP8B1 Gene Cholestasis progressive intrahepatic type 1 NGS Genetic DNA Test

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

ATP8B1 Gene Cholestasis, benign recurrent intrahepatic NGS Genetic DNA Test

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

ATP8B1 Gene Cholestasis, intrahepatic, of pregnancy, type 1 NGS Genetic DNA Test

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

ATP8B1 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
31
  • C Sequence analysis of the entire coding region

Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis

Variantyx, Inc.
United States
1335
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

ATP8B1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • 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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Cholestasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
210134
  • D Deletion/duplication analysis

Cholestasis Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
7112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis Deletion / Duplication Panel

HNL Genomics Connective Tissue Gene Tests
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Comprehensive Panel

HNL Genomics Connective Tissue Gene Tests
United States
14
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis NGS Panel

HNL Genomics Connective Tissue Gene Tests
United States
14
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Alagille syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
13
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 105

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.