Filters

See more specimen types...

Other countries

Results: 1 to 20 of 37 (representing 23 labs)

Tests names and labsConditionsGenes and analytesMethods

Hypercholesterolemia type B autosomal dominant

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

APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
44
  • C Sequence analysis of the entire coding region

LDLR. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

APOB. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

APOB. Detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing

Instituto de Medicina Genomica
Spain
21
  • T Targeted variant analysis

Familial Hypercholesterolemia Sequencing Panel

PreventionGenetics
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene

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

FAMILIAL HYPERCHOLESTEROLEMIA

Laboratorio de Genetica Clinica SL
Spain
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Apolipoprotein B Deficiency, Mutation (p.Arg3500Gln) APOB Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Apolipoprotein B Deficiency , Mutations (p.Arg3500Gln,p.Arg3500Trp,p.His3543Tyr) APOB Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Apolipoprotein B Deficiency, Sequencing APOB Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1821
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Diarrhea Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1821
  • D Deletion/duplication analysis

Congenital Diarrhea Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1821
  • C Sequence analysis of the entire coding region

Hypercholesterolemia, autosomal dominant, type B

Labor Dr. Wisplinghoff
Germany
11
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Invitae Familial Hypercholesterolemia Panel

Invitae
United States
54
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypercholesterolemia

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
34
  • C Sequence analysis of the entire coding region

Familial hypercholesterolemia type B

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Hypercholesterolemia, familial (NGS panel for 15 genes)

CGC Genetics
Portugal
315
  • C Sequence analysis of the entire coding region

Hypercholesterolemia (frequent mutations of APOB gene)

CGC Genetics
Portugal
11
  • T Targeted variant analysis

Results: 1 to 20 of 37

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.

Support Center