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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

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

CentoScreen

Centogene AG - the Rare Disease Company
Germany
316314
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

CYP19A1 - 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

CentoDysmorph Panel

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

Invitae Hypogonadotropic Hypogonadism Panel

Invitae
United States
6746
  • 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

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Aromatase deficiency, 613546 (Aromatase deficiency) (CYP19A1 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

Aromatase deficiency, 613546 (Aromatase deficiency) (CYP19A1 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Ambiguous Genitalia Panel

PreventionGenetics, Part of Exact Sciences
United States
12885
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Premature Ovarian Failure (POF) Panel

PreventionGenetics, Part of Exact Sciences
United States
1921
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qGenEx Sex development disorders

Quantitative Genomic Medicine Laboratories, SL
Spain
4548
  • C Sequence analysis of the entire coding region

46,XX Disorders of Sex Development/Complete Gonadal Dysgenesis Panel

Genetic Services Laboratory University of Chicago
United States
911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Panel of premature ovarian failure. NGS panel of 15 genes.

Genologica Medica
Spain
5015
  • C Sequence analysis of the entire coding region

Genital Abnormalities / Sex Development Disorders Panel

Genologica Medica
Spain
9549
  • C Sequence analysis of the entire coding region

Aromatase deficiency: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

Aromatase Deficiency

Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center
Turkey
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 40

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.