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Test Code SFTPB UM Surfactant Protein B DNA Analysis

Clinical System Name

Surfactant Protein B DNA Analysis

Description

Surfactant proteins are critical for pulmonary health as they manage infectious challenges and the biomechanical stresses of oxygen exchange on the lung tissue. Inherited Surfactant Protein B Deficiency is caused by autosomal recessive mutations of the SFTPB gene that result in atelectasis and respiratory failure in full-term infants.

 

Clinical indications for testing are:

  •     respiratory failure in full-term newborns
  •     chronic respiratory distress after the newborn period
  •     pediatric interstitial disease, especially chronic pneumonitis of infancy (CPI), desquamative interstitial pneumonitis (DIP), and non-specific interstitial pneumonitis (NSIP)
  •     follow-up to abnormal histology or BAL/tracheal aspirate analysis
     

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 6 - 10 mL

Minimum Vol: 3 mL

 

Notes:  It is recommended that patients wait at least 2 weeks after a packed cell or platelet transfusion and at least 4 weeks after a whole blood transfusion procedure prior to blood draw for testing at ambry genetics.  Testing quality may be affected if patients have recieved chemotherapy wihin the last 120 days.  Samples for SFTPC, SFTPB and ABCA3 may be shared.

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 20μg at a concentration of ~100ng/μl in 50μl TE

Minimum Vol:  5μg of DNA at a concentration of ~100ng/μl in 50μl TE

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 5-14 d

 

Performing Laboratory

Ambry Genetics

Department

Department:  Ambry Genetics, 100 Columbia #200, Aliso Viejo, CA 92656

Phone Number: (949) 900-5500

 

Reference Range

Interpretive report is provided.

Methodology

Method: Sequence analysis of all translated regions of SFTPB

Analytical Volume:

Limitations:

Special Instructions

Links to:

 

Ambry Genetics

 

Clinical Utility

Surfactant Protein B (SP-B) has a critical role in stabilizing and enhancing rapid spreading of the surfactant phospholipid layer to reduce surface tension in the alveoli. Inherited Surfactant Protein B Deficiency is caused by autosomal recessive mutations of the SFTPB gene that result in atelectasis and respiratory failure in full-term infants. Rare cases of SP-B mutations resulting in severe disease with longer survival have been reported.3 Lung fluid and tissues of affected patients exhibit reduced or absent SP-B, accumulation of abnormal Surfactant Protein C precursor, and pulmonary alveolar proteinosis.

Send Out Instructions

Reference Test Name: Surfactant Protein B (SFTPB)
Reference Test Number: 1160
Instructions: Whole blood specimens may be stored refrigerated prior to shipping. Ship whole blood or saliva overnight, ambient temperature. Ambry does accept Saturday delivery.