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Athena #444 SMA Carrier Test (aka #111 SMA)
Message"No informed consent needed. Informed consent required in NY state only.
Athena Diagnostics offers the most comprehensive SMA testing including prenatal, pediatric and adult diagnostic testing as well as carrier testing.
For diagnostic testing order test code 111D.
For carrier testing order test code 444.
"
Athena Diagnostics offers the most comprehensive SMA testing including prenatal, pediatric and adult diagnostic testing as well as carrier testing.
For diagnostic testing order test code 111D.
For carrier testing order test code 444.
"
Test Code
444
CPT Codes
81401(1)
Preferred Specimen
whole blood
Minimum Volume
2-4 mL
Other Acceptable Specimens
"Whole blood
Yellow top (ACD-A or ACD-B)
"
Yellow top (ACD-A or ACD-B)
"
Instructions
"All prenatal samples must be coordinated with an Athena genetic counselor prior to sending. Please call 1-800-394-4493 to speak to one of our genetic counselors.
Notes: Athena Diagnostics does not have a cell culture facility; direct specimen accepted if client agrees to provide backup cell culture, which may be needed for additional testing. *Please call with questions
Preferred Specimen Type: Cultured cells of chorionic villus sample (CVS) or amniocytes
Minimum Volume: 2 confluent T-25 flasks (please keep back-up cultured cells until testing is complete)
Alternate Specimen Type: Direct chorionic villus sample (CVS) or Amniotic fluid (please keep back-up cultured cells until testing is complete)
Minimum Volume: 7-10 mLs direct amniotic fluid or 7-10 mgs of direct CVS (For CVS only, villi should be stored and transported in 10 mL sterile saline or RPMI tissue culture medium)
Maternal Cell Contamination Studies: Please provide a lavender or yellow top with 10 mL of maternal peripheral blood. The maternal sample may arrive separately.
Storage Conditions: Incubation of cultures at 37 degrees Celsius; Send direct samples immediately. Frozen samples are not acceptable.
Shipping Conditions: Room temperature, overnight.
Shipping Notes: Prenatal samples are not processed on weekends, therefore, no shipments on Fridays, and no arrivals on Saturday and Sundays*
Test Turnaround: Blood sample: 7 days
Prenatal: Please call 1-800-394-4493 to speak to one of our genetic counselors
"
Notes: Athena Diagnostics does not have a cell culture facility; direct specimen accepted if client agrees to provide backup cell culture, which may be needed for additional testing. *Please call with questions
Preferred Specimen Type: Cultured cells of chorionic villus sample (CVS) or amniocytes
Minimum Volume: 2 confluent T-25 flasks (please keep back-up cultured cells until testing is complete)
Alternate Specimen Type: Direct chorionic villus sample (CVS) or Amniotic fluid (please keep back-up cultured cells until testing is complete)
Minimum Volume: 7-10 mLs direct amniotic fluid or 7-10 mgs of direct CVS (For CVS only, villi should be stored and transported in 10 mL sterile saline or RPMI tissue culture medium)
Maternal Cell Contamination Studies: Please provide a lavender or yellow top with 10 mL of maternal peripheral blood. The maternal sample may arrive separately.
Storage Conditions: Incubation of cultures at 37 degrees Celsius; Send direct samples immediately. Frozen samples are not acceptable.
Shipping Conditions: Room temperature, overnight.
Shipping Notes: Prenatal samples are not processed on weekends, therefore, no shipments on Fridays, and no arrivals on Saturday and Sundays*
Test Turnaround: Blood sample: 7 days
Prenatal: Please call 1-800-394-4493 to speak to one of our genetic counselors
"
Transport Container
lavender top (EDTA)
Transport Temperature
room temp
Specimen Stability
Room temperature: 5 days; Refrigerated: 14 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Frozen
Methodology
Polymerase Chain Reaction (PCR), Quantitative Dose Analysis
Reference Range
Normal: Presence of two or more SMN1 gene copies (dosage)
