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Results: 1 to 20 of 30

Tests names and labsConditionsGenes, analytes, and microbesMethods

Crigler-Najjar syndrome, type II, 606785, Autosomal recessive (Crigler-Najjar syndrome) (UGT1A1 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

Crigler-Najjar syndrome, type II, 606785, Autosomal recessive (Crigler-Najjar syndrome) (UGT1A1 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

NCF4 Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 NGS Genetic DNA Test

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

UDP-Glucuronosyl Transferase 1A1 (UGT1A1), Full Gene Sequencing

Mayo Clinic Laboratories Mayo Clinic
United States
101
  • C Sequence analysis of the entire coding region

UGT1A1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Crigler Najjar and Gilbert Syndrome Test

Labcorp Genetics (formerly Invitae) LabCorp
United States
51
  • D Deletion/duplication analysis

Invitae Cholestasis Panel

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

Hereditary Hemolytic Anemia Cascade

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
2431
  • 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

Crigler-Najjar Syndrome and Gilbert Syndrome via the UGT1A1 Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Cholestasis panel. NGS panel of 46 genes.

Genologica Medica
Spain
8846
  • C Sequence analysis of the entire coding region

Detection of germline polymorphism UGT1A1 * 28

Genologica Medica
Spain
51
  • C Sequence analysis of the entire coding region

Crigler-Najjar syndrome: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
21
  • C Sequence analysis of the entire coding region

Cholestasis NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
10473
  • C Sequence analysis of the entire coding region

Hyperbilirubinemia: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
64
  • C Sequence analysis of the entire coding region

Intrahepatic Cholestasis NGS Panel

Fulgent Genetics
United States
155
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Crigler-Najjar Syndrome (UGT1A1 Single Gene Test)

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Gilbert Syndrome (UGT1A1 Single Gene Test)

Fulgent Genetics
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
718337
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 30

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.