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Results: 121 to 135 of 135

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

CeGaT GmbH
Germany
2217
  • C Sequence analysis of the entire coding region

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

CeGaT GmbH
Germany
1244
  • C Sequence analysis of the entire coding region

Progeria syndromes Panel

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

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • 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

Cutis laxa gene panel

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

ALDH18A1 mutational analysis

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

ALDH18A1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Nuclear-Mito NGS Panel

Fulgent Genetics
United States
1103676
  • 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

Connective Tissue NGS Panel

Fulgent Genetics
United States
18760
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Thoracic Aortic Aneurysm Panel

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
6249
  • C Sequence analysis of the entire coding region

Results: 121 to 135 of 135

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.