Sample Requirements

Specimen requirements listed below are divided into pediatric and prenatal testing for your convenience. For information about parental or familial testing, expand the test type associated with the proband’s specimen. Please contact us if you have questions about our specimen requirements or about shipping a sample.

---

Pediatric Sample Requirements

Download PDF Version

Microarray

Sample Type	Quantity Required	Comments
Peripheral Blood	2-3 mL NaHep and 2-3 mL EDTA whole blood Neonates: 1 mL NaHep and 1 mL EDTA whole blood	Sufficient for multiple tests Minimum 0.5 mL blood in NaHep
Cord Blood	2-3 mL NaHep and 2-3 mL EDTA whole blood	MCC testing recommended
Buccal Swab	OCD-100 ORAcollect (2 swabs) OR iSWAB™ - DNA Collection Kit (4 swabs)1 (Order a collection kit)	Secondary specimen may be needed for FISH visualization
DNA	5μg1,2 extracted in a CLIA-certified lab	Recommend Puregene extraction kit

Karyotype

Sample Type	Quantity Required	Comments
Peripheral Blood	3-5 mL NaHep whole blood Neonates: 1 mL NaHep whole blood	Minimum 0.5 mL blood
Cord Blood	2-3 mL NaHep whole blood

Sequencing / Molecular

Sample Type	Quantity Required	Comments
Peripheral Blood	2-3 mL EDTA whole blood Neonates: 1 mL EDTA whole blood
Cord Blood	1 mL EDTA whole blood	MCC testing recommended

Parental Samples

Sample Type	Quantity Required	Comments
Peripheral Blood	2-3 mL NaHep and 2-3 mL EDTA whole blood
Buccal Swab	OCD-100 ORAcollect (2 swabs) or iSWAB™ - DNA Collection Kit (4 swabs)1 (Order a collection kit)	For microarray, MCC, or sequencing only

Additional comments:

• Sodium heparin (NaHep) = green top tube; EDTA = lavender top tube
• Heel sticks: Not an acceptable specimen type
• Lithium heparin: Sodium heparin preferred, but lithium heparin is acceptable
• For sample types not listed above, please contact Allele Diagnostics to discuss

Shipping Instructions:

• All tubes must be labeled with patient name and date of birth. Enclose completed Allele Diagnostics Pediatric requisition form(s) and any previous cytogenetic/molecular reports.
• Ship at room temperature in a leak-proof, rigid container with overnight delivery.
• If shipping on Friday, mark Saturday delivery on the shipping label.

Prenatal Sample Requirements

Download PDF Version

Microarray

Sample Type	Quantity Required
Amniotic Fluid	Direct: 15-20 mL whole fluid Culture: 2 x T-25 flasks (70% confluent)
Cord Blood or PUBS	1 mL NaHep and 1 mL EDTA whole blood
CVS	Direct: 5-10 mg in sterile media or saline Culture: 2 x T-25 flasks (70% confluent)
DNA	5μg1
Products of Conception or Fetal Demise	Direct: 15-20 mg in sterile media or saline Culture: 2 x T-25 flasks (70% confluent)

Karyotype

Sample Type	Quantity Required
Amniotic Fluid	15-20 mL whole fluid
Cord Blood or PUBS	1 mL NaHep whole blood
CVS	15-20 mg in sterile media or saline
Products of Conception or Fetal Demise	15-20 mg in sterile media or saline

Other Testing

Test Type	Quantity Required
AFP with reflex to AChE	2.5 mL whole amniotic fluid

Parental Samples

Sample Type	Quantity Required
Buccal Swab (array and MCC only)	iSWAB™ - DNA Collection Kit (4 swabs)
Peripheral Blood	3-5 mL NaHep and 3-5 mL EDTA whole blood

Sample requirements comments:

• Multiple tests: Although sample requirements are often not additive, it is better to provide additional sample for multiple tests. Specific requirements depend on the combination of tests desired. Please contact Allele Diagnostics if you need multiple tests and have questions about how much sample is required.
• POC/fetal demise samples: Acceptable sample types include fetal tissue biopsy, cord biopsy (near fetal insertion site), or placenta. FFPE is NOT accepted.
• For sample types and tests not listed above, please contact Allele Diagnostics to discuss.

Shipping Instructions:

• Prior to sending, label all sample containers with patient name and birthdate. Enclose completed Allele Diagnostics Prenatal Requisition Form and previous cytogenetic/molecular reports.
• All specimen containers should be completely filled with the appropriate media, and the containers' caps should be sealed with parafilm for shipping.
• Specimens should be shipped at room temperature in a leak-proof, rigid container with overnight delivery. The FedEx label must be marked for Saturday delivery if there is a chance the sample may arrive over the weekend.
  Ship to:
  • Allele Diagnostics
  • 120 N. Pine St., Ste 152
  • Spokane, WA 99202
  • 844-ALLELE2 (255-3532)