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Results: 1 to 19 of 19 (representing 11 labs)

Tests names and labsConditionsGenes and analytesMethods

SHORT syndrome

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

PIK3R1 sequencing

Genetic Services Laboratory University of Chicago
United States
11
  • C Sequence analysis of the entire coding region

SHORT SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes)

CGC Genetics
Portugal
2525
  • C Sequence analysis of the entire coding region

Lipodystrophies (NGS panel for 17 genes)

CGC Genetics
Portugal
1717
  • C Sequence analysis of the entire coding region

Lipodystrophies and progeroid syndromes (NGS panel for 25 genes)

CGC Genetics
Portugal
2525
  • C Sequence analysis of the entire coding region

Lipodystrophies (NGS panel for 17 genes)

CGC Genetics
Portugal
1717
  • C Sequence analysis of the entire coding region

SHORT Syndrome , Sequencing PIK3R1 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
8746
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Agammaglobulinemia Panel

Invitae
United States
116
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Common Variable Immunodeficiency Panel

Invitae
United States
2917
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PIK3R1 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • D Deletion/duplication analysis

PIK3R1 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
21
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PIK3R1

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

SHORT syndrome (sequence analysis of PIK3R1 gene)

CGC Genetics
Portugal
11
  • C Sequence analysis of the entire coding region

SHORT syndrome

Human Developmental Genetics Laboratory Medical College of Wisconsin
United States
12
  • S Mutation scanning of the entire coding region
  • C Sequence analysis of the entire coding region

SHORT Syndrome

Lipodystrophy Laboratory University of Texas Southwestern Medical Center - Dallas
United States
11
  • S Mutation scanning of the entire coding region

Results: 1 to 19 of 19

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.

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