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Results: 21 to 40 of 51

Tests names and labsConditionsGenes, analytes, and microbesMethods

Skin laxa panel. NGS panel of 10 genes.

Genologica Medica
Spain
2010
  • C Sequence analysis of the entire coding region

ALDH18A1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
41
  • D Deletion/duplication analysis

Connective Tissue Panel, Comprehensive

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
11245
  • C Sequence analysis of the entire coding region

Cutis Laxa Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
158
  • C Sequence analysis of the entire coding region

Cutis laxa: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
129
  • C Sequence analysis of the entire coding region

Progeria Syndrome NGS Panel

Fulgent Genetics
United States
4216
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperammonemia and Urea Cycle Disorder NGS Panel

Fulgent Genetics
United States
7056
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Micro Syndrome NGS Panel

Fulgent Genetics
United States
627
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autosomal Dominant and Recessive Cutis Laxa , Panel Massive Sequencing (NGS) 12 Genes

Reference Laboratory Genetics
Spain
1512
  • C Sequence analysis of the entire coding region

Invitae Urea Cycle Disorders Panel

Invitae
United States
1310
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel

CeGaT GmbH
Germany
2217
  • 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

EFEMP2 mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
221
  • E Sequence analysis of select exons

COG7 mutational analysis

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

ATP7A mutational analysis

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

ATP6V0A2 mutational analysis

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

Results: 21 to 40 of 51

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.