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Results: 1 to 18 of 18

Tests names and labsConditionsGenes, analytes, and microbesMethods

Invitae Cholestasis Panel

Invitae
United States
210134
  • D Deletion/duplication analysis

Invitae Hypoglycemia Panel

Invitae
United States
173119
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, Part of Exact Sciences
United States
297180
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Monogenic Diabetes Panel

Invitae
United States
5928
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Monogenic Diabetes Panel

PreventionGenetics, Part of Exact Sciences
United States
10154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Hypoglycemia Panel - Expanded

PreventionGenetics, Part of Exact Sciences
United States
126111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pancreatic and cerebellar agenesis, 609069, Autosomal recessive; PACA (Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome) (PTF1A 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

Pancreatic and cerebellar agenesis, 609069, Autosomal recessive; PACA (Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome) (PTF1A gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel.

Genologica Medica
Spain
13384
  • C Sequence analysis of the entire coding region

Comprehensive panel of monogenic diabetes. 28-gene NGS panel.

Genologica Medica
Spain
6028
  • C Sequence analysis of the entire coding region

Gastrointestinal atresia panel. NGS panel of 13 genes.

Genologica Medica
Spain
1913
  • C Sequence analysis of the entire coding region

Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes.

Genologica Medica
Spain
7350
  • C Sequence analysis of the entire coding region

Permanent Neonatal Diabetes Mellitus , Panel Massive Sequencing (NGS) 16 Genes

Reference Laboratory Genetics
Spain
1216
  • C Sequence analysis of the entire coding region

Hereditary Ataxia

Asper Biogene Asper Biogene LLC
Estonia
180139
  • C Sequence analysis of the entire coding region

PTF1A 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

MODY Neonatal Diabetes NGS Panel

Fulgent Genetics
United States
5630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Diabetes-Obesity NGS Panel

Fulgent Genetics
United States
7356
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.