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Results: 1 to 20 of 72

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

SERPINA1 Gene, Full Gene Analysis

Mayo Clinic Laboratories Mayo Clinic
United States
11
  • C Sequence analysis of the entire coding region

Alpha1-antitrypsin deficiency (SERPINA1 gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • T Targeted variant analysis

SERPINA1 sequencing

Genetics Laboratory, Trillium Health Partners Trillium Health Partners, Credit Valley Hospital Site
Canada
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Alpha-1-Antitrypsin Mutation / Genotyping

Molecular Diagnostic Laboratory Nebraska Medicine
United States
11
  • 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

SERPINA1 - NGS including CNV analysis

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

CentoNephro Panel

Centogene AG - the Rare Disease Company
Germany
498498
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNephro Plus Panel

Centogene AG - the Rare Disease Company
Germany
499499
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary Panel

Centogene AG - the Rare Disease Company
Germany
99101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Cholestasis Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
210134
  • D Deletion/duplication analysis

Cholestasis Panel

PreventionGenetics, part of Exact Sciences
United States
13069
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Alpha-1 Antitrypsin Deficiency Test

Labcorp Genetics (formerly Invitae) LabCorp
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Emphysema due to AAT deficiency, 613490, Autosomal recessive; A1ATD (Alpha-1-antitrypsin deficiency) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490, Autosomal recessive (Alpha-1-antitrypsin deficiency) (SERPINA1 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

Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490, Autosomal recessive (Alpha-1-antitrypsin deficiency) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Pulmonary disease, chronic obstructive, susceptibility to, 606963 (Alpha-1-antitrypsin deficiency) (SERPINA1 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

Pulmonary disease, chronic obstructive, susceptibility to, 606963 (Alpha-1-antitrypsin deficiency) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Emphysema due to AAT deficiency, 613490, Autosomal recessive; A1ATD (Alpha-1-antitrypsin deficiency) (SERPINA1 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 Genetic Health Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
409164
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 72

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.