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Test Code ABCA3 DNA ABCA3 Surfactant Deficiency Analysis Request

Clinical System Name

ABCA3 Surfactant Deficiency Analysis Request

Description

Surfactant proteins are critical for pulmonary health as they manage infectious challenges and the biomechanical stresses of oxygen exchange on the lung tissue. Clinical and histological presentation of ABCA3 gene mutations may be similar to that of either Surfactant Protein B Deficiency or Surfactant Protein C Deficiency. Mutations are typically inherited in an autosomal recessive pattern and are a significant cause of both neonatal respiratory failure and pediatric interstitial lung disease.

 

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: 5 mL

Minimum Vol: 2 mL

 

Notes:  To avoid testing donor DNA, do not send blood within 28 days of whole blood (white cell) transfusion. For patients who have had a bone marrow transplant, please send whole blood and saliva together. 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: Affix large Cerner labels to tubes and place in refrigerator send-outs rack. Store extra labels and copy of requisition in the clear plastic box on 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 7-14 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 ABCA3.

Analytical Volume:

Limitations:

CPT Codes

81479x1

Special Instructions

Links to:

 

Ambry Genetics

 

Clinical Utility

ABCA3 protein is involved in the formation of lamellar bodies which transport surfactant phospholipids and proteins from their production site to the alveolar space. Clinical and histological presentation of ABCA3 gene mutations may be similar to that of either SP-B or SP-C deficiencies. Mutations are typically inherited in an autosomal recessive pattern and are a significant cause of both neonatal respiratory failure and pediatric ILD. Research on the interactions of these genes is unfolding. The co-occurrence of a heterozygous ABCA3 mutation and the SFTPC mutation I73T in three infantile-onset pediatric ILD patients whose asymptomatic parents each carried only one of the two mutations suggests that ABCA3 mutations may modify the severity of the SFTPC mutation.

Send Out Instructions

Reference Test Name: ABCA3
Reference Test Number: 1300
Instructions: Whole blood specimens may be stored refrigerated prior to shipping. Ship whole blood or saliva overnight, ambient temperature. Ambry does accept Saturday delivery.