Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
5 ml whole blood or 1 ug extracted DNA
Minimum Required
3 ml whole blood
Phlebotomy Draw
Yes
Clinical Features
Clinical features associated with known variant testing are dependent on the gene and variant for which testing is being performed.
Ordering Recommendations
Order Sequencing Known Genetic Variant for targeted testing of a sequence variant.
The Sequencing Known Gene Variant – Lab Requested is only ordered when the laboratory requests targeted testing of a sequence variant in the family member of a proband to assist in variant classification. Please contact the dgdgeneticcounselor@email.chop.edu for questions regarding this option.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri, 9:00 am to 4:00 pm
Reported
28 days
Detection Rate
The analytical sensitivity for MLPA and sequencing is close to 100%.
Utility
The clinical utility of these assays is to aid in interpretation of variants previously identified in the Genomic Diagnostics Laboratory, confirm a clinical diagnoses, facilitate pre-symptomatic testing of at risk relatives, rule out a diagnosis in individuals with limited expression of disease, confirm the need for clinical surveillance in patients positive for a mutation, and/or facilitate prenatal diagnosis.
Synonyms
CGK
SEQKC
SEQKN
known variant, known mutation, targeted variant, targeted sequencing
LIS Mnemonic
SEQKC
Available STAT
No
Test Notes
Sequence or deletion analysis of a mutation previously identified in a family member will be performed.
This order should be selected when known mutation testing is not selectable as a specific order for the gene in which the variant has been identified.
If the variant was previously identified through an outside laboratory, a copy of the original test report and a positive control sample from the individual in whom the variant was originally identified is requested. The Genomic Diagnostics Laboratory may not be able to facilitate testing of all variants identified through other laboratories. Please contact the laboratory for additional questions regarding this testing.
CPT Codes
81403 or 81479 (Call the Division of Genomics Diagnostics at 215-590-4452)
Collection
Collect
Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
5 ml whole blood or 1 ug extracted DNA
Minimum Required
3 ml whole blood
Phlebotomy Draw
Yes
Ordering
Clinical Features
Clinical features associated with known variant testing are dependent on the gene and variant for which testing is being performed.
Ordering Recommendations
Order Sequencing Known Genetic Variant for targeted testing of a sequence variant.
The Sequencing Known Gene Variant – Lab Requested is only ordered when the laboratory requests targeted testing of a sequence variant in the family member of a proband to assist in variant classification. Please contact the dgdgeneticcounselor@email.chop.edu for questions regarding this option.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri, 9:00 am to 4:00 pm
Reported
28 days
Detection Rate
The analytical sensitivity for MLPA and sequencing is close to 100%.
Utility
The clinical utility of these assays is to aid in interpretation of variants previously identified in the Genomic Diagnostics Laboratory, confirm a clinical diagnoses, facilitate pre-symptomatic testing of at risk relatives, rule out a diagnosis in individuals with limited expression of disease, confirm the need for clinical surveillance in patients positive for a mutation, and/or facilitate prenatal diagnosis.
Synonyms
CGK
SEQKC
SEQKN
known variant, known mutation, targeted variant, targeted sequencing
LIS Mnemonic
SEQKC
Available STAT
No
Test Notes
Sequence or deletion analysis of a mutation previously identified in a family member will be performed.
This order should be selected when known mutation testing is not selectable as a specific order for the gene in which the variant has been identified.
If the variant was previously identified through an outside laboratory, a copy of the original test report and a positive control sample from the individual in whom the variant was originally identified is requested. The Genomic Diagnostics Laboratory may not be able to facilitate testing of all variants identified through other laboratories. Please contact the laboratory for additional questions regarding this testing.
Result Interpretation
Administrative
CPT Codes
81403 or 81479 (Call the Division of Genomics Diagnostics at 215-590-4452)
