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Results: 1 to 20 of 69

Tests names and labsConditionsGenes and analytesMethods

Hypercholesterolemia due to LDL-receptor-disorder AD

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

Familial hypercholesterolemia Extended Panel

Health in Code S.L.
Spain
123
  • C Sequence analysis of the entire coding region

Dyslipidemias / Early atherosclerosis

Health in Code S.L.
Spain
184
  • C Sequence analysis of the entire coding region

Familial hypercholesterolemia Basic Panel

Health in Code S.L.
Spain
16
  • C Sequence analysis of the entire coding region

Mixed hyperlipidemias

Health in Code S.L.
Spain
1113
  • 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

Genetic Study of Familial Hypercholesterolemia

HeartGenetics IST spin-off community (Instituto Superior T├ęcnico, Universidade de Lisboa)
Portugal
14
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15411578
  • 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

LDLR Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

LDLR Sequence Analysis (Familial Mutation/Variant Analysis)

Baylor Miraca Genetics Laboratories
United States
11
  • T Targeted variant analysis

LDLR Sequence Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • C Sequence analysis of the entire coding region

LDLR Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis

LDLR Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Miraca Genetics Laboratories
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Hypercholesterolemia Sanger Sequencing Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ashkenazi Jewish diseases

Asper Biotech Asper Biotech Ltd.
Estonia
4337
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Hypercholesterolemia via the LDLR Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial hypercholesterolemia

Health in Code S.L.
Spain
12
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 69

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.