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Results: 41 to 60 of 80

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ehlers Danlos Syndrome Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
3114
  • C Sequence analysis of the entire coding region

Intellectual Disability X-linked Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
13690
  • C Sequence analysis of the entire coding region

Connective Tissue Panel, Comprehensive

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

Intellectual Disability & Autism Spectrum Disorders Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
210139
  • C Sequence analysis of the entire coding region

Cutis Laxa

Asper Biogene Asper Biogene LLC
Estonia
1410
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy NGS Panel

Fulgent Genetics
United States
9329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Menkes Syndrome (ATP7A Single Gene Test)

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

Paroxysmal Extreme Pain Disorder NGS Panel

Fulgent Genetics
United States
18553
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ehlers-Danlos Syndrome

Asper Biogene Asper Biogene LLC
Estonia
6937
  • C Sequence analysis of the entire coding region

Occipital Horn Syndrome , Massive Sequencing (NGS) ATP7A Gene

Reference Laboratory Genetics
Spain
11
  • 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

OCCIPITAL HORN SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
3435
  • C Sequence analysis of the entire coding region

Single gene testing ATP7A

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

Spinal Muscular Atrophy (SMA) Panel

CeGaT GmbH
Germany
4427
  • C Sequence analysis of the entire coding region

Dystonia All Panel

CeGaT GmbH
Germany
4954
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
146143
  • 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

Results: 41 to 60 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.