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Results: 1 to 20 of 43

Tests names and labsConditionsGenes, analytes, and microbesMethods

HSPD1 Gene SPG13 NGS Genetic DNA Test

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

HSD3B7 Gene Bile acid synthesis defect type 1, congenital NGS Genetic DNA Test

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

HSD3B7 - NGS including CNV analysis

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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • 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

Invitae Hypoglycemia Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cholestasis Gene Panel

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

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

Bile acid synthesis defect, congenital, 1, 607765, Autosomal recessive; CBAS1 (Congenital bile acid synthesis defect type 1) (HSD3B7 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

Bile acid synthesis defect, congenital, 1, 607765, Autosomal recessive; CBAS1 (Congenital bile acid synthesis defect type 1) (HSD3B7 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

WES metabolic disorders

Translational Metabolic Laboratory Radboud University Medical Centre
Netherlands
1625
  • E Sequence analysis of select exons

Next Generation Sequencing for Jaundice Associated Genes Variation Test

National Taiwan University Hospital A1 Center National Taiwan University Hospital
Taiwan
473
  • C Sequence analysis of the entire coding region

Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 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

Bile acid synthesis defect, congenital 1 (HSD3B7 gene)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • C Sequence analysis of the entire coding region

Metabolic Diseases Panel

CGC Genetics Unilabs
Portugal
1837
  • C Sequence analysis of the entire coding region

Movement diseases (WES based NGS panel of 931 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
10930
  • C Sequence analysis of the entire coding region

Congenital bile acid synthesis defect type 1 (sequence analysis of HSD3B7 gene)

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

Results: 1 to 20 of 43

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.