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Results: 21 to 40 of 53

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Broad Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
224112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Spastic Paraplegia Comprehensive Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9862
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

L1 Syndrome via the L1CAM Gene

PreventionGenetics, part of Exact Sciences
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

L1CAM

Institute for Human Genetics University Medical Center Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Inherited Metabolic Disorders Panel

Dhiti Omics Technologies Private Ltd
India
376317
  • C Sequence analysis of the entire coding region

X-linked intellectual disability panel. 99-gene NGS panel.

Genologica Medica
Spain
14399
  • C Sequence analysis of the entire coding region

Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel.

Genologica Medica
Spain
8843
  • C Sequence analysis of the entire coding region

Spastic paraplegia panel

Genologica Medica
Spain
10060
  • C Sequence analysis of the entire coding region

Neuronal migration disorder panel. NGS panel of 58 genes.

Genologica Medica
Spain
11057
  • 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

Intellectual Disability & Autism Spectrum Disorders Panel

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

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macrocephaly/Overgrowth Syndrome NGS Panel

Fulgent Genetics
United States
10038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

L1 Syndrome (L1CAM Single Gene Test)

Fulgent Genetics
United States
31
  • 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

HSP, Supplemental Sporadic Evaluation

Athena Diagnostics
United States
2422
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 53

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.