Sign in →

Test Code LAB1808 22q11.2 Del/Dup by MLPA

Clinical System Name

22q11.2 Deletion/Duplication test by MLPA



Microdeletions/duplications in the 22q11.2 region cause a variety of disorders, including DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS) and cat eye syndrome (CES). 


This test can be used to detect copy number changes (deletions and duplication) in the chromosome 22q11.2 region. Deletions in 22q11.2 occur in 1 in 4,000 live births and can cause a variety of clinical features including:

  • Cardiac anomalies
  • Palatal defects
  • Learning difficulties
  • Hypocalcemia
  • Immune deficiency
  • Atypical facial features  

This test can also be used to detect rare copy number changes in the 10p14 region.

Sample Requirements

Note: For patients who have had a whole blood transfusion, wait 10 days post transfusion to draw for genetic testing. No wait time is necessary for blood or saliva collection if the patient received leuko-reduced red cells or plasma.


Specimen: Whole blood, cord blood

Container(s): Lavender/EDTA, Yellow/ACD A or B

Preferred Vol: 3 mL

Minimum Vol: 1 mL



Processing Instructions

Reject due to: Heparin

Spin: No

Aliquot: No

Temp: Refrigerate

Storage location: Molecular Genetics box in CPA refrigerator #2


Off-site collection: Refrigerate blood samples until ready to ship.  Transport all sample types at room temperature via overnight shipping.


Specimen Type Temperature Time
Whole blood Room temp 3-5 days
Whole blood Refrigerated 7 days


Note: Whole blood samples > 7days may be submitted to be assessed by our lab for acceptability for testing.


STAT Performed TAT
Contact lab Monday - Friday 5-10 days


Performing Laboratory

Seattle Children's Laboratory


Department:  Molecular Genetics Laboratory

Phone: 206-987-3872


Lab Client Services: 206-987-2617


Lab Genetic Counselor:

CPT Codes

81479 (updated 11/1/17)


Method: Multiple ligation-dependent probe amplification (MLPA) of targeted regions on chromosome 22 and chromosome 10.


Limitations: More than 98% of individuals with 22q.11.2 deletion syndrome can be detected with this assay

Reference Range

Interpretive report will be provided


Molecular Genetics

Clinical Utility

Copy number changes in 22q.11.2 occur in 1 in 4,000 live births and can cause a variety of clinical features that include cardiac anomalies, palatal defects, learning difficulties, hypocalcemia, immune deficiency and atypical facial features.  Other common names for this disorder include DiGeorge Syndrome and velocardiofacial syndrome (VCFS).

Special Instructions

Link to: 22q11.2 Deletion Syndrome GeneReviews

Link to: 22q Test Comparison Tool