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Results: 1 to 20 of 48

Tests names and labsConditionsGenes, analytes, and microbesMethods

CSF2RA Gene Surfactant metabolism dysfunction type 4 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Surfactant Metabolism Panel

Invitae
United States
4019
  • D Deletion/duplication analysis

Invitae Phagocytic Disorders Including Neutropenia Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Neonatal Respiratory Distress Panel

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

Surfactant metabolism dysfunction, pulmonary, 4, 300770; SMDP4 (Hereditary pulmonary alveolar proteinosis) (CSF2RA 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

Surfactant metabolism dysfunction, pulmonary, 4, 300770; SMDP4 (Hereditary pulmonary alveolar proteinosis) (CSF2RA 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

PulmZoom

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

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

Hereditary neutropenia (WES based NGS panel of 35 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
135
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Lung Disorders Panel 

CGC Genetics Unilabs
Portugal
1107
  • C Sequence analysis of the entire coding region

Surfactant metabolism dysfunction type 4 (deletion/duplication analysis on CSF2RA gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Surfactant metabolism dysfunction type 4 (sequence analysis of CSF2RA gene)

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

BONE MARROW FAILURE SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
1165
  • E Sequence analysis of select exons

CONGENITAL NEUTROPENIA SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
138
  • E Sequence analysis of select exons

HERMANSKY-PUDLAK SYNDROME EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
131
  • E Sequence analysis of select exons

Interstitial lung disease panel. 25-gene NGS panel.

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

Bone marrow failure syndrome panel. NGS panel of 122 genes.

Genologica Medica
Spain
194122
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 48

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.