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Results: 41 to 45 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

PIK3R1 Sequencing

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

PIK3R1 Single Gene

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

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • 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: 41 to 45 of 45

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.