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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

GUCY1A3 Gene Moyamoya type 6 with achalasia NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Cerebrovascular Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
2330
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

GUCY1A1 - NGS including CNV analysis

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

Blood Coagulation Panel

Centogene AG - the Rare Disease Company
Germany
110112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel

PreventionGenetics, part of Exact Sciences
United States
346160
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Hereditary Moyamoya Disease Panel 

Invitae
United States
22
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Moyamoya 6 with achalasia, 615750, Autosomal recessive (Moyamoya disease with early-onset achalasia) (GUCY1A3 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

Comprehensive Epilepsy

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
414800
  • C Sequence analysis of the entire coding region

Cerebral vascular malformations (WES based NGS panel of 30 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
130
  • C Sequence analysis of the entire coding region

Moyamoya disease (panel NGS basado en WES de 3 genes, incluyendo análisis de CNVs)

CGC Genetics Unilabs
Portugal
13
  • C Sequence analysis of the entire coding region

Dermatology Panel 

CGC Genetics Unilabs
Portugal
1277
  • C Sequence analysis of the entire coding region

Moyamoya disease 6 with achalasia (sequence analysis of GUCY1A3 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

SUDDEN DEATH/ IDIOPATHIC VENTRICULAR FIBRILLATION EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1394
  • E Sequence analysis of select exons

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Stroke (NGS Panel and Copy Number Analysis + mtDNA)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
385
  • C Sequence analysis of the entire coding region

Autism/ID Xpanded Panel

GeneDx
United States
22592
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EpiXpanded Panel

GeneDx
United States
11501
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Moyamoya disease: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
33
  • C Sequence analysis of the entire coding region

GUCY1A1 Single Gene

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

Mental retardation - different panels

Institute of Human Genetics Cologne University
Germany
72536
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.