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Results: 61 to 80 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

ELN mutational analysis

Connective Tissue Laboratory Ghent University Hospital
Belgium
191
  • E Sequence analysis of select exons

ALDH18A1 mutational analysis

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

FBNL5 mutational analysis

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

PYCR1 mutational analysis

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

SCYL1BP1 mutational analysis

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

ATP7A Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Charcot Marie Tooth Disease Extended NGS Panel

Fulgent Genetics
United States
17259
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Hereditary Motor Neuropathy NGS Panel

Fulgent Genetics
United States
3815
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID (X-Linked Intellectual Disability) NGS Panel

Fulgent Genetics
United States
162117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

ATP7A-Related Copper Transport Disorders

MGZ Medical Genetics Center
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Copper Transport Disorders: ATP7A Sequencing

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 61 to 80 of 80

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.