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Results: 1 to 20 of 20

Tests names and labsConditionsGenes and analytesMethods

SRCAP deletion/duplication analysis

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

SRCAP sequencing

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

Floating-Harbor syndrome

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

Floating-Harbor Syndrome via the SRCAP Gene

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

Facial Dysostosis Related Disorders NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
3319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Rubinstein-Taybi Syndrome and Floating-Harbor Syndrome NextGen Sequencing (NGS) Panel

PreventionGenetics
United States
33
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TruGenome Predisposition Screen (Whole Genome Sequencing)

Illumina Clinical Services Laboratory Illumina
United States
15391578
  • C Sequence analysis of the entire coding region

SRCAP. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

SRCAP. Detection of the mutations between 2407-2517 codons by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
2944
  • C Sequence analysis of the entire coding region

Single gene testing SRCAP

CeGaT GmbH
Germany
11
  • C Sequence analysis of the entire coding region

Floating-Harbor syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Amyotrophic Lateral Sclerosis (ALS) Panel

CeGaT GmbH
Germany
2954
  • C Sequence analysis of the entire coding region

SNF2-RELATED CBP ACTIVATOR PROTEIN

MVZ Dortmund Dr. Eberhard and Partner
Germany
11
  • C Sequence analysis of the entire coding region

SNF2-RELATED CBP ACTIVATOR PROTEIN

MVZ Dortmund Dr. Eberhard and Partner
Germany
11
  • C Sequence analysis of the entire coding region

SRCAP

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

Floating-Harbor syndrome (sequence analysis of SRCAP gene)

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

Proportionate Short Stature/Small for Gestational Age: Sequencing and Deletion/Duplication Panel

Emory Genetics Laboratory Emory University
United States
7745
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Floating Harbor Syndrome

Clinical Genomics Maastricht University Medical Centre
Netherlands
11
  • C Sequence analysis of the entire coding region

Floating-Harbor Syndrome

MVZ Dortmund Dr. Eberhard and Partner
Germany
11
  • E Sequence analysis of select exons
  • 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.