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Results: 21 to 40 of 64

Tests names and labsConditionsGenes, analytes, and microbesMethods

Detection by FISH of Williams syndrome

CGC Genetics Unilabs
Portugal
11
  • F Fluorescence in situ hybridization (FISH)

NIPT extended

CIBIC S.A.
Argentina
1112
  • D Deletion/duplication analysis

NIPT in POC

CIBIC S.A.
Argentina
1112
  • D Deletion/duplication analysis

NIPT Basic

CIBIC S.A.
Argentina
114
  • D Deletion/duplication analysis

EpiSign Variant

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

Williams Syndrome (FISH)

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • M FISH-metaphase

Williams-Beuren syndrome

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • D Deletion/duplication analysis

Microdeletion FISH - Williams-Beuren ELN (7q11.23)

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • M FISH-metaphase

FISH Follow-up

GeneDx
United States
131
  • M FISH-metaphase

Microdeletion FISH

Integrated Genetics Cytogenetics and Biochemistry Laboratory
United States
101
  • M FISH-metaphase

EpiSign Complete

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
341
  • M Methylation analysis

Detection of mental retardation

Genolife InformaciĆ³n de Vida
Mexico
64
  • D Deletion/duplication analysis

Structural Heart Disease NGS Panel

Fulgent Genetics
United States
7328
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Supravalvular Aortic Stenosis (ELN Single Gene Test)

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

Congenital Heart Defect NGS Panel

Fulgent Genetics
United States
377114
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Williams Syndrome

Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
Iran
11
  • I FISH-interphase
  • M FISH-metaphase

ELN - Gene Sequencing & Del/Dup analysis

Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center
Netherlands
31
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • T Targeted variant analysis

Invitae Congenital Heart Defects and Heterotaxy Panel

Invitae
United States
12882
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Williams syndrome

Bioarray
Spain
11
  • D Deletion/duplication analysis

Congenital Heart Defects Panel

CeGaT GmbH
Germany
4244
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 64

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.