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Results: 1 to 20 of 48

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoMetabolic MOx

Centogene US, LLC - The Rare Disease Company
United States
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene US, LLC - The Rare Disease Company
United States
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene US, LLC - The Rare Disease Company
United States
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoIEM Panel

Centogene US, LLC - The Rare Disease Company
United States
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Adrenal Hyperplasia (CAH) Panel

Centogene US, LLC - The Rare Disease Company
United States
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

POR - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195221
  • A Analyte
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Infertility Panel

Centogene AG - the Rare Disease Company
Germany
243238
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

POR - NGS including CNV analysis

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

CentoIEM Panel

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

Congenital Adrenal Hyperplasia (CAH) Panel

Centogene AG - the Rare Disease Company
Germany
1212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CentoDysmorph Panel

Centogene AG - the Rare Disease Company
Germany
740728
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Skeletal Disorders Panel

Invitae
United States
624349
  • D Deletion/duplication analysis

Invitae Disorders of Sex Development Panel

Invitae
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Sterol Disorders Panel

PreventionGenetics
United States
1812
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (POR gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (Prenatal) (MLPA)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • D Deletion/duplication analysis

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis) (POR gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

CraniofacialZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
11045
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 48

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.