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Results: 1 to 20 of 32

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hyperinsulinism Panel

Genetic Services Laboratory University of Chicago
United States
1324
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Tier 1 Panel: Diazoxide Unresponsive Hyperinsulinism

Genetic Services Laboratory University of Chicago
United States
23
  • 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

Familial Hyperinsulinism

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
11
  • T Targeted variant analysis

Custom Panel (Endocrinology)

PreventionGenetics, part of Exact Sciences
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KCNJ11-Related Familial Hyperinsulinism

Myriad Genetics, Inc.
United States
11
  • C Sequence analysis of the entire coding region

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Level 2: Expanded Congenital Hyperinsulinism Panel

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
76
  • D Deletion/duplication analysis
  • S Mutation scanning of the entire coding region

Level 1: Congenital Hyperinsulinisim Panel

Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine
United States
53
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

GeneSeq PLUS, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292597
  • C Sequence analysis of the entire coding region

Partner Reflex to GeneSeq

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Inheritest 300 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
172350
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 500 PLUS Panel

Integrated Genetics Westborough LabCorp
United States
287578
  • D Deletion/duplication analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Inheritest High Frequency panel

Integrated Genetics Westborough LabCorp
United States
109110
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Inheritest 100 PLUS panel

Integrated Genetics Westborough LabCorp
United States
115142
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

FAMILIAL HYPERINSULINISM

BioReference Health
United States
11
  • T Targeted variant analysis

Dysautonomia, Familial (ELP1), 2 Variants

ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories
United States
99
  • E Sequence analysis of select exons

Results: 1 to 20 of 32

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.