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Results: 1 to 20 of 144

Tests names and labsConditionsGenes, analytes, and microbesMethods

Carrier Screening - Comprehensive Panel (145 Genes)

Genesys Diagnostics Genesys Diagnostics, Inc.
United States
185145
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • X Mutation scanning of select exons
  • T Targeted variant analysis

Congenital Neutropenia GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
4630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

EBV/Lymphoproliferation GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
3525
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Telomere Disorders Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3018
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HLH Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3523
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Plasma ADA2 activity

Purine Metabolic and Immunodeficiency Lab Duke University Medical Center
United States
51
  • E Enzyme assay

PREVENTEST

GeneID Lab - Advanced Molecular Diagnostics
United States
6034
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive HemeComplete Profile + Heme Fusion + CALR PCR + FLT3 PCR

PathGroup
United States
16160
  • T Targeted variant analysis

CentoBreast

Centogene AG - the Rare Disease Company
Germany
5828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoColon

Centogene AG - the Rare Disease Company
Germany
6733
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer

Centogene AG - the Rare Disease Company
Germany
11368
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoCancer Comprehensive

Centogene AG - the Rare Disease Company
Germany
155107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Solid Tumor Panel

Centogene AG - the Rare Disease Company
Germany
218135
  • C Sequence analysis of the entire coding region

PRF1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SBDS - NGS including CNV analysis

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

NBN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Panel

Centogene AG - the Rare Disease Company
Germany
734744
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 144

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.