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Results: 1 to 20 of 103

Tests names and labsConditionsGenes, analytes, and microbesMethods

NIPA1 Gene SPG6 NGS Genetic DNA Test

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

ERLIN1 Gene SPG62, ERLIN1 related NGS Genetic DNA Test

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

ABCB4 Gene Cholestasis intrahepatic, of pregnancy, type 3 NGS Genetic DNA Test

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

ABCB4 Gene Cholestasis progressive intrahepatic type 3 NGS Genetic DNA Test

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

ABCB4 Gene Gallbladder disease type 1 NGS Genetic DNA Test

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

ABCB4 mutation analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC
Netherlands
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ABCB4 - 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

Pancreatitis Panel

Centogene AG - the Rare Disease Company
Germany
2729
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Cholestasis Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8112
  • 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

Cholestasis, intrahepatic, of pregnancy, 3, 614972, Autosomal recessive, Autosomal dominant (Intrahepatic cholestasis of pregnancy) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Cholestasis, intrahepatic, of pregnancy, 3, 614972, Autosomal recessive, Autosomal dominant (Intrahepatic cholestasis of pregnancy) (ABCB4 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

Results: 1 to 20 of 103

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.