U.S. flag

An official website of the United States government

Filters

See more specimen types...

Other countries

Results: 1 to 20 of 37

Tests names and labsConditionsGenes, analytes, and microbesMethods

SFTPC - NGS including CNV analysis

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

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Surfactant Metabolism Panel

Invitae
United States
4019
  • D Deletion/duplication analysis

Invitae Neonatal Respiratory Distress Panel

Invitae
United States
163111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Respiratory Distress Panel

PreventionGenetics
United States
75
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Surfactant metabolism dysfunction, pulmonary, 2, 610913, Autosomal dominant; SMDP2 (Chronic respiratory distress with surfactant metabolism deficiency) (SFTPC 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

Surfactant metabolism dysfunction, pulmonary, 2, 610913, Autosomal dominant; SMDP2 (Chronic respiratory distress with surfactant metabolism deficiency) (SFTPC 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

PulmZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
163128
  • C Sequence analysis of the entire coding region

Surfactant Dysfunction Panel

Ambry Genetics
United States
33
  • C Sequence analysis of the entire coding region

Interstitial Lung Disease Panel

PreventionGenetics
United States
2624
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Pulmonary Fibrosis and Surfactant Dysfunction Disorders Panel

PreventionGenetics
United States
810
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Surfactant Protein C Deficiency via the SFTPC Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Panel of surfactant dysfunction and neonatal respiratory distress

Genologica Medica
Spain
75
  • C Sequence analysis of the entire coding region

Interstitial lung disease panel. 25-gene NGS panel.

Genologica Medica
Spain
4025
  • C Sequence analysis of the entire coding region

Complete panel of pulmonology. NGS panel of 66 genes.

Genologica Medica
Spain
11566
  • C Sequence analysis of the entire coding region

Lung Surfactant Deficiency. Panel NGS genes: ABCA3, FOXF1, NKX2-1, SFTPB, SFTPC.

Genologica Medica
Spain
75
  • C Sequence analysis of the entire coding region

SFTPC sequencing

Duzen Laboratories Duzen BBAGUAS
Turkey
11
  • C Sequence analysis of the entire coding region

Comprehensive lung panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
6466
  • C Sequence analysis of the entire coding region

Neonatal Respiratory Distress panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
1616
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 37

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.