Performed

Weekly

Methodology

Next Generation Sequencing (NGS)

Reported

Routine: 16 days from receipt of specimen

Synonyms

  • Inherited Lipidemias
  • Low-Density Lipoprotein (LDL) Cholesterol
  • High-Density Lipoprotein (HDL) Cholesterol
  • Triglycerides
  • Next Generation Sequencing (NGS)
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on

Specimen Type

Blood

Specimen Volume

Adult: 5 mL (Minimum: 1 mL)
Pediatric: 1 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Pediatric Collection

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     

Reference Interval

The reference interval for the Lipidemia Comprehensive Sequencing Panel is defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

Interpretive Data

Refer to report for result specific interpretation details.

The Lipidemia Comprehensive Sequencing Panel is a next generation sequencing assay (NGS) which evaluates a panel of genes for the presence of pathogenic variants associated with inherited lipidemias characterized by abnormal levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and/or triglycerides. Using a peripheral blood sample as a source of germline DNA, the test interrogates the coding regions of a total of 25 genes which are known to be clinically relevant for the development of these disorders. The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.

Consent for genetic testing is recommended.

List of the 25 genes detected by the Lipidemia Comprehensive Sequencing Panel
ABCA1 ABCG5 ABCG8 ANGPTL3 APOA1 APOA5 APOB APOC2 CETP CREB3L3
CYP27A1 GPD1 GPIHBP1 LCAT LDLR LDLRAP1 LIPA LIPG LMF1 LPL
LRP6 MTTP PCSK9 PNPLA2 SAR1B          
Ordering

Performed

Weekly

Methodology

Next Generation Sequencing (NGS)

Reported

Routine: 16 days from receipt of specimen

Synonyms

  • Inherited Lipidemias
  • Low-Density Lipoprotein (LDL) Cholesterol
  • High-Density Lipoprotein (HDL) Cholesterol
  • Triglycerides
  • Next Generation Sequencing (NGS)
  • Inherited Disease
  • Clinical Genomics

Performing Lab

Clinical Genomics

Turnaround Time

After specimen receipt in the Clinical Genomics Lab, results are generally available within 16 days.

Add-on Eligibility

Yes, within 7 days of collection
*If DNA has been extracted previously for other Clinical Genomics tests, this is stored for 6 weeks and may qualify for add-on
Collection

Specimen Type

Blood

Specimen Volume

Adult: 5 mL (Minimum: 1 mL)
Pediatric: 1 mL (Minimum: 1 mL)

Collection Container

EDTA Whole Blood Tube (Lavender Top Vacutainer)

Pediatric Collection

3.0 mL EDTA Whole Blood Tube (Lavender Top Vacutainer)

Unacceptable Conditions

  1. Severely clotted or grossly hemolyzed specimens
  2. Specimens that have been improperly collected, stored, or transported
  • Specimens collected in preservatives other than EDTA
    • ACD tubes are accepted, but EDTA is preferred
  • Serum or plasma
  • Specimens that have been frozen
  • Commingled specimens
  1. Specimens in tubes that have been damaged or broken during transport
  2. Specimens with insufficient volume for testing
  3. Unlabeled or mislabeled specimens

Storage/Transport Temperature

Transport Instructions
Collection Location Transport Temperature Processing Required Timeframe
ED/Inpatient Room Temperature None Specimen must be received by the lab within 3 days of collection
Laboratory/Outpatient/Off-Site Room Temperature None Specimen must be received by the lab within 3 days of collection

Storage: Refrigerated

Stability (from collection to initiation)

Stability:
Prior to Extraction:
  • Room Temperature: 3 days
  • Refrigerated: 7 days
  • Frozen: Unacceptable
Extracted DNA:
  • Room Temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: Indefinitely

Laboratory Storage: 
  • Original Specimen: Refrigerated
  • Extracted DNA: Frozen
Laboratory Retention: 
  • Original Specimen: 1 month
  • Extracted DNA: 6 weeks

Collection Instructions

Labeling Instructions:
  1. When labeling blood tubes, leave a small window visible for the lab to assess the fill volume and sample integrity
  2. Ensure that the barcode is in the correct orientation.

Collection Instructions:
  1. Follow the correct order of draw when collecting with additional orders and tube types:
     
Result Interpretation

Reference Interval

The reference interval for the Lipidemia Comprehensive Sequencing Panel is defined as the DNA sequence corresponding to those regions targeted by the assay as listed in the Genome Reference Consortium Human build 37 (GRCh37).

Interpretive Data

Refer to report for result specific interpretation details.

The Lipidemia Comprehensive Sequencing Panel is a next generation sequencing assay (NGS) which evaluates a panel of genes for the presence of pathogenic variants associated with inherited lipidemias characterized by abnormal levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and/or triglycerides. Using a peripheral blood sample as a source of germline DNA, the test interrogates the coding regions of a total of 25 genes which are known to be clinically relevant for the development of these disorders. The resulting genomic profile can be used to provide molecular confirmation of a clinical diagnosis in a symptomatic person and/or assist with risk assessment of relatives of an affected individual.

Consent for genetic testing is recommended.

List of the 25 genes detected by the Lipidemia Comprehensive Sequencing Panel
ABCA1 ABCG5 ABCG8 ANGPTL3 APOA1 APOA5 APOB APOC2 CETP CREB3L3
CYP27A1 GPD1 GPIHBP1 LCAT LDLR LDLRAP1 LIPA LIPG LMF1 LPL
LRP6 MTTP PCSK9 PNPLA2 SAR1B          

×
Learn More Remind Me Later Dismiss