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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

PSAT1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Comprehensive Neurometabolic Disorders Panel

Invitae
United States
351249
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Cerebral Palsy Spectrum Disorders Panel

Invitae
United States
638419
  • D Deletion/duplication analysis

Non-Immune Hydrops Fetalis Panel

PreventionGenetics, Part of Exact Sciences
United States
291148
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neu-Laxova syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neu-Laxova syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
42
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neu-Laxova syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Phosphoserine aminotransferase deficiency, 610992, Autosomal recessive; PSATD (Phosphoserine aminotransferase deficiency) (PSAT1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Neu-Laxova syndrome 2, 616038, Autosomal recessive; NLS2 (Neu-Laxova syndrome) (PSAT1 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Neu-Laxova syndrome 2, 616038, Autosomal recessive; NLS2 (Neu-Laxova syndrome) (PSAT1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Neu-Laxova syndrome Deletion / Duplication panel

HNL Genomics Connective Tissue Gene Tests
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neu-Laxova syndrome Comprehensive panel

HNL Genomics Connective Tissue Gene Tests
United States
42
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neu-Laxova syndrome NGS panel

HNL Genomics Connective Tissue Gene Tests
United States
42
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
257191
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neurotransmitter Disorders Panel

Invitae
United States
5244
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PSAT1

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Neu-Laxova syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
22
  • C Sequence analysis of the entire coding region

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.