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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

Renal Stone/Electrolyte Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
8271
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial hyperaldosteronism type I (Chimeric CYP11B1/CYP11B2 gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
12
  • T Targeted variant analysis

Invitae Expanded Renal Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMetabolic MOx

Centogene AG - the Rare Disease Company
Germany
195205
  • 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

Invitae Disorders of Sex Development Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
8853
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Aldosteronism, glucocorticoid-remediable, 103900, Autosomal dominant; HALD1 (Familial hyperaldosteronism type I) (CYP11B1 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

Invitae Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine
United States
525338
  • C Sequence analysis of the entire coding region

qGenEx Sex development disorders

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

CYP11B1 Sequence Analysis

Baylor Genetics
United States
21
  • C Sequence analysis of the entire coding region

CYP11B1 Prenatal Sequence Analysis

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

CYP11B1 Familial Mutation/Variant Analysis

Baylor Genetics
United States
21
  • E Sequence analysis of select exons

Congenital adrenal hyperplasia panel. 9-gene NGS panel.

Genologica Medica
Spain
149
  • 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

11-Beta-Hydroxylase Gene (CYP11B1) Mutations

Duzen Laboratories Duzen BBAGUAS
Turkey
21
  • C Sequence analysis of the entire coding region

Monogenic Hypertension Genetic Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
1611
  • C Sequence analysis of the entire coding region

Hyperaldosteronism: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • C Sequence analysis of the entire coding region

Congenital Adrenal Hyperplasia NGS Panel

Fulgent Genetics
United States
328
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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.