Filters

See more specimen types...

Other countries

Results: 1 to 20 of 36 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Cutis laxa panel

Centogene AG - the Rare Disease Company
Germany
108
  • C Sequence analysis of the entire coding region

Cutis laxa, autosomal recessive IIB - Sanger / Del Dup Comprehensive

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Cutis laxa, autosomal recessive IIB (ARCL2B) - Deletion/Duplication

Connective Tissue Gene Tests
United States
11
  • D Deletion/duplication analysis

Cutis laxa, autosomal recessive IIB (ARCL2B) - Sanger Sequencing

Connective Tissue Gene Tests
United States
11
  • C Sequence analysis of the entire coding region

Cutis laxa type IIB

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

Cutis Laxa via the PYCR1 Gene

PreventionGenetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
845637
  • D Deletion/duplication analysis

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CUTIS LAXA: NGS PANEL

Laboratorio de Genetica Clinica SL
Spain
129
  • C Sequence analysis of the entire coding region

Autosomal Recessive Cutis Laxa Type IIB, Sequencing PYCR1 Gene

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

Connective Tissue Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
14783
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Disorder/O.I. Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
11162
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CUTIS LAXA TYPE 1 (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
56
  • C Sequence analysis of the entire coding region

NGS panel - Cutis laxa

Genome Diagnostics VU University Medical Center
Netherlands
58
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region
  • T Targeted variant analysis

Chondrodysplasia punctata Panel

CeGaT GmbH
Germany
2322
  • C Sequence analysis of the entire coding region

Progeria syndromes Panel

CeGaT GmbH
Germany
2018
  • C Sequence analysis of the entire coding region

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm

CeGaT GmbH
Germany
3844
  • C Sequence analysis of the entire coding region

Connective tissue disorders - Ehlers-Danlos syndrome, Marfan syndrome, Loeys-Dietz syndrome, Aortic Aneurysm

CeGaT GmbH
Germany
3844
  • C Sequence analysis of the entire coding region

LTBP4 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
141
  • E Sequence analysis of select exons

Cutis laxa gene panel

Connective Tissue Laboratory Ghent University Hospital
Belgium
1411
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 36

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