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Results: 1 to 20 of 33 (representing 17 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
6021038
  • C Sequence analysis of the entire coding region

Allan-Herndon-Dudley syndrome

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

MCT8 deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis

MCT8 sequencing and deletion/duplication analysis

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
329300
  • -- Sequence analysis of the entire coding region

X-Linked Intellectual Disability NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
8081
  • -- Deletion/duplication analysis
  • -- Sequence analysis of the entire coding region
  • -- Targeted variant analysis

Hereditary Spastic Paraplegia Comprehensive NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
4861
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Complex Hereditary Spastic Paraplegia NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
4353
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Allan-Herndon-Dudley Syndrome or Monocarboxylate Transporter 8 Deficiency via the SLC16A2 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Thyroid dyshormonogenesis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1210
  • C Sequence analysis of the entire coding region

CONGENITAL HYPOTHYROIDISM

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
1922
  • C Sequence analysis of the entire coding region

Leukodistrophy

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
4658
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegia

Asper Biotech Asper Biotech Ltd.
Estonia
3434
  • C Sequence analysis of the entire coding region

Invitae Hereditary Spastic Paraplegia X-linked Panel

Invitae
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel

CeGaT GmbH
Germany
147143
  • -- Sequence analysis of the entire coding region

X-Linked Intellectual Disability Panel, Sequencing, 76 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
12776
  • C Sequence analysis of the entire coding region

Allan-Herndon-Dudley syndrome: SLC16A2 gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

SLC16A2

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

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

Invitae
United States
5863
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.

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