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Test Code SFTPC UM Surfactant Protein C DNA Analysis

Clinical System Name

Surfactant Protein C 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. Defects in the Surfactant Protein C SFTPC gene can manifest as one of many different interstitial lung disease (ILD) diagnoses across a wide range of onset ages, even within the same family.

 

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 SFTPC

Analytical Volume:

Limitations:

Special Instructions

Links to:

 

Ambry Genetics

 

Clinical Utility

Surfactant Protein C (SP-C) plays a role in reducing surface tension. Defects in the SFTPC gene can manifest as one of many different diagnoses across a wide range of onset ages, even within the same family. SP-C related disease has presented as chronic or nonspecific interstitial pneumonitis in infancy and childhood, as the usual and desquamative types of interstitial pneumonitis in early through late adulthood, and as other types of interstitial lung disease (ILD). Familial cases with dominant inheritance of mutations and sporadic cases with de novo mutations have been described.

Send Out Instructions

Reference Test Name: Surfactant Protein C (SFTPC)
Reference Test Number: 1180
Instructions: Whole blood specimens may be stored refrigerated prior to shipping. Ship whole blood or saliva overnight, ambient temperature. Ambry does accept Saturday delivery.