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Test ID: PMARP Postmortem Arrhythmia Panel, Varies


Advisory Information


This test is intended for use when EDTA whole blood is not available and formalin-fixed, paraffin-embedded (FFPE) tissue or blood spots are the only available samples. If EDTA whole blood is available, order 1 of the following: BRGGP / Brugada Syndrome Multi-Gene Panel, Blood or LQTGP / Long QT Syndrome Multi-Gene Panel, Blood.

 

Targeted testing for familial variants (also called site-specific or known mutation testing) is available for the genes on this panel. See:

-KVAR1 / Known Variant Analysis-1 Variant, Varies

-KVAR2 / Known Variant Analysis-2 Variants, Varies

-KVAR3 / Known Variant Analysis-3+ Variants, Varies

 

Call 800-533-1710 to confirm the appropriate test for targeted testing.



Necessary Information


1. Hereditary Cardiomyopathies and Arrhythmias: Patient Information (T725) is required, see Special Instructions. Testing may proceed without the patient information however it aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to complete the form and send it with the specimen.

2. Pathology report must accompany specimen in order for testing to be performed. Include physician name and phone number with the specimen.



Specimen Required


Preferred:

Specimen Type: Tissue

Container/Tube: Tissue block

Collection Instructions: Submit a formalin-fixed, paraffin-embedded tissue block.

Additional Information: Testing will be attempted on blocks of any age but may be canceled if adequate DNA concentration cannot be obtained.

Specimen Stability Information: Ambient

 

Acceptable:

Specimen Type: Blood spot

Container/Tube: Whatman FTA Classic Card or Whatman Protein Saver 903 Card

Specimen Volume: 4-5 blood spots

Collection Instructions:

1. Completely fill at least 3 circles on the filter paper card (approximately 80 microliters of blood per circle)

2. Let blood dry on the filter paper at ambient temperature in a horizontal position for 3 hours.

3. Do not expose specimen to heat or direct sunlight.

4. Do not stack wet specimens.

5. Keep specimen dry.

Specimen Stability Information: Ambient (preferred)/Refrigerated


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

-Informed Consent for Genetic Testing for Deceased Individuals (T782)

2. If not ordering electronically, complete, print, and send a Cardiovascular Test Request (T724) with the specimen.

Useful For

Providing a postmortem genetic evaluation in the setting of sudden unexplained death and suspicion for long QT or Brugada syndrome

 

Identification of a pathogenic variant in the decedent, which may assist with risk assessment and predictive testing of at-risk family members

Method Name

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Supplemental Sanger Sequencing

Reporting Name

Postmortem Arrhythmia Panel

Specimen Type

Varies

Specimen Minimum Volume

Tissue: See Specimen Required
Blood Spots: 3

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Ambient (preferred)
  Frozen 
  Refrigerated 

Clinical Information

Sudden cardiac death (SCD) is estimated to occur at an incidence of between 50 to 100 per 100,000 individuals in North America and Europe each year, claiming between 250,000 and 450,000 lives in the United States annually. In younger individuals (ages 15-35), the incidence of SCD is between 1 to 2 per 100,000 young individuals. The reported incidence of SCD is likely an underestimate since more overt causes of death, such as car accidents and drownings, may result from arrhythmogenic events. In cases of sudden unexplained death where autopsy does not detect a structural basis for sudden death, a hereditary arrhythmia may be suspected. Brugada syndrome (BrS) and long QT syndrome (LQTS) are inherited forms of cardiac arrhythmia that may cause sudden cardiac death. Postmortem diagnosis of a hereditary arrhythmia may assist in confirmation of the cause and manner of death, as well as risk assessment in living family members.

 

BrS is a genetic cardiac disorder characterized by ST segment elevation in leads V1-V3 on electrocardiography (EKG) with a high-risk for ventricular arrhythmias that can lead to sudden cardiac death. BrS is inherited in an autosomal dominant manner and is caused by pathogenic variants in genes that encode cardiac ion channels. The diagnosis of BrS is established based on the characteristic EKG abnormality along with personal and family health history, and also requires exclusion of other causes including cardiac structural abnormalities, medications, and electrolyte imbalances. Genes associated with BrS include CACNA1C, CACNA2D1, GPD1L, KCNE3, KCNJ8, SCN3B, CACNB2, SCN1B, and SCN5A. Additional clinical information about BrS can be found in MCL's BRGGP / Brugada Syndrome Multi-Gene Panel, Blood test.

 

LQTS is a genetic cardiac disorder characterized by QT prolongation and T-wave abnormalities on EKG, and may result in recurrent syncope, ventricular arrhythmia, and sudden cardiac death. Romano-Ward syndrome (RWS), which accounts for the majority of LQTS, follows an autosomal dominant inheritance pattern and is caused by pathogenic variants in genes that encode cardiac ion channels or associated proteins. The diagnosis of RWS is established by the prolongation of the QTc interval in the absence of other conditions or factors that may lengthen it, such as QT-prolonging drugs or structural heart abnormalities. Clinical factors such as a history of syncope and family history also contribute to the diagnosis of RWS. LQTS may also be associated with congenital profound bilateral sensorineural hearing loss, a condition known as Jervell and Lange-Nielsen syndrome (JLNS). JLNS is inherited in an autosomal recessive inheritance pattern and is caused by homozygous or compound heterozygous pathogenic variants in either the KCNQ1 or KCNE1 genes. Timothy syndrome (TS) is a multisystem disorder involving prolonged QT interval in association with congenital anomalies. TS is inherited in an autosomal dominant manner and usually occurs as a result of a de novo heterozygous variant in the CACNA1C gene. Genes associated with LQTS include AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, and SNTA1. Additional clinical information about LQTS can be found in MCL's ID LQTGP / Long QT Syndrome Multi-Gene Panel, Blood test.

Reference Values

An interpretive report will be provided.

Interpretation

Evaluation and categorization of variants is performed using the most recent published American College of Medical Genetics recommendations as a guideline. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.   

 

Multiple in silico evaluation tools may be used to assist in the interpretation of these results. The accuracy of predictions made by in silico evaluation tools is highly dependent upon the data available for a given gene, and predictions made by these tools may change over time. Results from in silico evaluation tools should be interpreted with caution and professional clinical judgment.

Clinical Reference

1. Fishman GI, Chugh SS, DiMarco JP, et al: Sudden cardiac death prediction and prevention: report from the National Heart, Lung and Blood Institute and Heart Rhythm Society Workshop. Circulation 2010;122(22):2335-2348

2. Semsarian C, Ingles J: Molecular autopsy in victims of inherited arrhythmias. J Arrhythm 2016;32(5):359-365

3. Stattin EL, Westin IM, Cederquist K, et al: Genetic screening in sudden cardiac death in the young can save future lives. Int J Legal Med 2016;130(1):59-664

4. Ackerman MJ, Priori SG, Willems S, et al: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies. Heart Rhythm 2011;8:1308-1339

Day(s) and Time(s) Performed

Wednesday; Varies

Analytic Time

6 weeks

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81443

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PMARP Postmortem Arrhythmia Panel In Process

 

Result ID Test Result Name Result LOINC Value
BA1399 Gene(s) Evaluated 36908-2
BA1400 Result Summary 50397-9
BA1401 Result Details 82939-0
BA1402 Interpretation 69047-9
BA1403 Additional Information 48767-8
BA1404 Method 49549-9
BA1405 Disclaimer 62364-5
BA1406 Reviewed by 18771-6
Mayo Clinic Laboratories | Cardiology Catalog Additional Information:

multi-gene panel