Laboratory Medicine

Test Catalogue

Primary Immunodeficiency Sequence
Test Name Primary Immunodeficiency Sequence
Specimen Type / Requirements Container Type = 2 Lavenders (EDTA) Minimum Testing Volume = 5 - 10mL Whole Blood Tube must fill to at least ½ or greater of its vacuum capacity
Specimen Handling Collection Instructions: MOH funding approval is requiried prior to collecting specimen. Blood should be collected in an EDTA tube (lavender top) designated for blood samples. The tube should be labeled with the patient’s name, date of birth and date of sample collection. If the patient has received an allogenic hematopoietic stem cell transplant, blood is not accepted. Laboratory Staff Instructions: Specimens can be collected and sent Monday to Friday and sent at room temperature as soon as possible. If it is necessary to store the sample prior to shipping, it should be refrigerated. If storing for longer than 3 days, the sample should be kept frozen until shipped or otherwise, shipped on a cold pack. The blood tube should be labeled with “infectious” if the sample is known to contain infectious material (for example; Hepatitis B-, Hepatitis C- or HIV virus). Rejection Criteria: Hemolyzed or clotted blood samples will not be accepted. Unlabeled or samples of not sufficient quantity Samples will be rejected. Stability: Stable at room temperature for 24 - 48hours, refrigerated for 5 days. Transportation: Send sample to core lab as soon as possible.
Required Documentation
Turnaround Time (TAT) 4 weeks routine and 2-3 weeks Stat	Test Utilization
Reference Value positive, negative or uncertain
Test code MISCS	Method Clinical grade next-generation sequencing with orthogonal confirmation as needed by Sanger sequencing (single nucleotide variants) or dPCR (copy number variants).
Testing Location Referred Out – Blueprint Genetics Finland	Other Information Last Updated: July 19, 2021

Primary Immunodeficiency Sequence

Test Name

Primary Immunodeficiency Sequence

Specimen Type / Requirements

Container Type = 2 Lavenders (EDTA)

Minimum Testing Volume = 5 - 10mL Whole Blood

Tube must fill to at least ½ or greater of its vacuum capacity

Specimen Handling

Collection Instructions: MOH funding approval is requiried prior to collecting specimen. Blood should be collected in an EDTA tube (lavender top) designated for blood samples. The tube should be labeled with the patient’s name, date of birth and date of sample collection.

If the patient has received an allogenic hematopoietic stem cell transplant, blood is not accepted.

Laboratory Staff Instructions: Specimens can be collected and sent Monday to Friday and sent at room temperature as soon as possible. If it is necessary to store the sample prior to shipping, it should be refrigerated. If storing for longer than 3 days, the sample should be kept frozen until shipped or otherwise, shipped on a cold pack. The blood tube should be labeled with “infectious” if the sample is known to contain infectious material (for example; Hepatitis B-, Hepatitis C- or HIV virus).

Rejection Criteria: Hemolyzed or clotted blood samples will not be accepted. Unlabeled or samples of not sufficient quantity Samples will be rejected.

Stability: Stable at room temperature for 24 - 48hours, refrigerated for 5 days.

Transportation: Send sample to core lab as soon as possible.

Required Documentation

Turnaround Time (TAT)

4 weeks routine and 2-3 weeks Stat

Test Utilization

Reference Value

positive, negative or uncertain

Test code

MISCS

Method

Clinical grade next-generation sequencing with orthogonal
confirmation as needed by Sanger sequencing
(single nucleotide variants) or dPCR (copy number variants).

Testing Location

Referred Out – Blueprint Genetics Finland

Other Information

Last Updated: July 19, 2021