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25188 Marfan Syndrome, Next-Gen Sequencing (8789)

Marfan Syndrome, Next-Gen Sequencing (8789)
Test Code: MISC
Synonyms/Keywords
Marfan Syndrome, Familial Aortic Aneurysm (FAA), Thoracic Aortic Aneurysm and Dissection (TAAD)
Test Components
​Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel detects mutations in all coding domains and splice junctions of ACTA2, CBS, FBN1, FBN2, MYH11, COL3A1, SLC2A10, SMAD3, TGFBR1 and TGFBR2 genes.
Useful For
​Identification of gene mutations that cause Marfan syndrome, aneurysm and related disorders. Can aid diagnosis and may dramatically improve outcome
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Whole Blood ​EDTA Lavender Top Tube (LTT) ​5 mL ​3 mL ​2 mL
Collection Processing Instructions

​Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.
For transfusion patients: Wait at least two weeks after a packed cell or platelet transfusion and at least four weeks after a whole blood transfusion prior to blood draw

For chemotherapy patients: DNA quality may be affected if patient has received chemotherapy within the last 120 days. Clients will be contacted to provide additional specimen if DNA quality is insufficient.

Specimen Stability Information
Specimen Type Temperature Time
​Whole Blood ​Refrigerate 7 days
Rejection Criteria
Frozen
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Ambry Genetics ​Varies 14-21 days ​PCR and
Next-Gen Sequencing
Reference Range Information
Performing Location Reference Range
​Ambry Genetics ​Interpretive Report
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81405 ​3 Molecular pathology procedure level 6​
​81406 ​1 Molecular pathology procedure level 7​
​81408 ​1 Molecular pathology procedure level 9​
​81479 ​5 Unlisted molecular pathology procedure​
Synonyms/Keywords
Marfan Syndrome, Familial Aortic Aneurysm (FAA), Thoracic Aortic Aneurysm and Dissection (TAAD)
Test Components
​Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel detects mutations in all coding domains and splice junctions of ACTA2, CBS, FBN1, FBN2, MYH11, COL3A1, SLC2A10, SMAD3, TGFBR1 and TGFBR2 genes.
Ordering Applications
Ordering Application Description
​Centricity ​Marfan Syndrome Nex-Gene Seq Pnl (8780)
​Cerner ​None
​COM ​Marfan Syndrome Nex-Gene Seq
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen Type Preferred Container/Tube Acceptable Container/Tube Specimen Volume Specimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Whole Blood ​EDTA Lavender Top Tube (LTT) ​5 mL ​3 mL ​2 mL
Collection Processing

​Storage: 2-8°C. Do not freeze.
Shipment: Room temperature for two-day delivery.
For transfusion patients: Wait at least two weeks after a packed cell or platelet transfusion and at least four weeks after a whole blood transfusion prior to blood draw

For chemotherapy patients: DNA quality may be affected if patient has received chemotherapy within the last 120 days. Clients will be contacted to provide additional specimen if DNA quality is insufficient.

Specimen Stability Information
Specimen Type Temperature Time
​Whole Blood ​Refrigerate 7 days
Rejection Criteria
Frozen
Useful For
​Identification of gene mutations that cause Marfan syndrome, aneurysm and related disorders. Can aid diagnosis and may dramatically improve outcome
Test Components
​Marfan, Aneurysm and Related Disorders Next-Gen Sequencing Panel detects mutations in all coding domains and splice junctions of ACTA2, CBS, FBN1, FBN2, MYH11, COL3A1, SLC2A10, SMAD3, TGFBR1 and TGFBR2 genes.
Reference Range Information
Performing Location Reference Range
​Ambry Genetics ​Interpretive Report
For more information visit:
Performing Laboratory Information
Performing Location Day(s) Test Performed Analytical Time Methodology/Instrumentation
​Ambry Genetics ​Varies 14-21 days ​PCR and
Next-Gen Sequencing
For billing questions, see Contacts
Outreach CPTs
CPT Modifier
(if needed)
Quantity Description Comments
​81405 ​3 Molecular pathology procedure level 6​
​81406 ​1 Molecular pathology procedure level 7​
​81408 ​1 Molecular pathology procedure level 9​
​81479 ​5 Unlisted molecular pathology procedure​
For most current information refer to the Marshfield Laboratory online reference manual.