Who Would Benefit from Cardiac Genetic Testing?

1

A person with a strong family history of cardiovascular disease

Determine if they carry a gene mutation that increases their risk of developing a condition. If they do have an inherited mutation, they might want to have screening tests to look for disease indications early, or even take steps to try to lower their risk.

2

A person already diagnosed with a cardiovascular abnormality

This is especially true if there are other factors to suggest the condition might have been caused by an inherited mutation (such as a strong family history or if the disease was diagnosed at a young age). Genetic testing might show if the person has a higher risk of developing cardiac instability. It can also help other family members decide if they want to be tested for the mutation.

3

Family members of a person known to have an inherited gene mutation that increases their risk of cardiovascular events

Testing can help them know if they need screening tests to look for disease early, or if they should take steps to try to lower their risk.

Cardiomyopathy Panel Best Practices

Preferred Specimen

2mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)

Alternate Specimens

Saliva
Buccal swab
gDNA

Let's get started!

How to Ship Your Samples

Follow IATA Regulations

Please note that Psomagen sample collection kits are built to protect the samples from being damaged during transport and to comply with the International Air Transport Association (IATA) regulation. If you are using packaging other than that provided by Psomagen, please make sure to follow the "three layers of packaging" rule to avoid the risk of having the package destroyed by the courier:

A primary sample receptacle sealed (collection tube).
A leak-proof specimen bag containing absorbent material.
An outer packaging that meets the local postal regulations and is labeled as “Exempt Human Specimen.”

For more information please refer to page 187 of IATA Dangerous Goods Regulation.

Additional Shipment Requirements

For saliva, ship at room temperature (overnight shipping is not necessary).

For blood, we recommend using overnight shipping the same day that the blood is collected.

Blood can be kept at room temperature for up to 48 hours.
We request that blood is refrigerated no longer than two weeks.
Please do not freeze blood as deletion/duplication analysis is not supported for frozen or partially frozen blood.

Please ship the specimen in a crush-proof container via FedEx Priority Overnight (in accordance with the FedEx Packaging Guidelines for Clinical Samples.

Our US Shipping Address

Attn: Clinical Laboratory Testing Personnel
Psomagen Inc.
1330 Piccard Drive, Ste 103
Rockville, MD 20850

Test for 129 Genes linked to heart health

Gene List

A2ML1
ABCC9
ACADVL
ACTC1
ACTN2
ADA2
AGL
AKAP9
ALMS1
ANK2
ANKRD1
BAG3
BRAF
CACNA1C
CACNB2
CALR3
CASQ2
CAV3
CAVIN4
CBL
CHRM2
CPT2
CRYAB
CSRP3
CTF1
CTNNA3

DES
DMD
DNAJC19
DOLK
DSC2
DSG2
DSP
DTNA
ELAC2
EMD
EYA4
FHL1
FHL2
FKRP
FKTN
FLNC
FXN
GAA
GATA4
GATA6
GATAD1
GLA
GPD1L
HCN4
HRAS
ILK

JPH2
JUP
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNQ1
KRAS
LAMA4
LAMP2
LDB3
LMNA
MAP2K1
MAP2K2
MIB1
MTO1
MYBPC3
MYH6
MYH7
MYL2
MYL3
MYLK2
MYOM1

MYOZ2
MYPN
NDUFB11
NEBL
NEXN
NF1
NKX2-5
NPPA
NRAS
PDLIM3
PKP2
PLN
PRDM16
PRKAG2
PTPN11
RAF1
RANGRF
RASA1
RBM20
RIT1
RRAS
RYR2
SCN1B
SCN3B
SCN4B
SCN5A

SDHA
SGCD
SHOC2
SLC22A5
SNTA1
SOS1
SOS2
SPRED1
TAZ
TBX20
TCAP
TGFB3
TMEM43
TMEM70
TMPO
TNNC1
TNNI3
TNNT2
TPM1
TRDN
TTN
TTR
TXNRD2
VCL
YWHAE

DNA sequencing involves the extraction of genomic DNA from specimens collected in approved containers and provided the specimen meets required sample minimum quantity (e.g. volume, weight, etc). This is followed by quantification and qualification to ensure the adequacy of amount and purity for sequencing. Subsequently, whole exome sequencing is conducted on an Illumina^TM short read sequencing (SRS) platform (e.g., NovaSeq X Plus^TM) at Psomagen, Inc.’s laboratories (CLIA # 21D2062464, CAP # 8742212).

DNA sequence alignment, variant calling, and variant filtering are performed utilizing the Illumina DRAGEN^TM bioinformatics pipeline (version 4.2.4.) and various tool sets, which align reads to the human reference genome (GRCh38) and identify single nucleotide variants (SNVs) and small insertions/deletions (indels). Variant annotations are performed using a pipeline available in Fabric Enterprise. Variant review and interpretation are conducted according to the standards and guidelines set forth by the American College of Medical Genetics and Genomics (Richards S, et al., Genet Med., 2015) by Fabric Clinical Labs (CLIA #45D2281059, CAP # 9619501). Only variants classified as pathogenic or likely pathogenic are reported. The following quality filters are applied to all variants: coverage <40x, allele balance outside 0.3-0.7. Variants in the following genes are reported: A2ML1, ABCC9, ACADVL, ACTC1, ACTN2, ADA2, AGL, AKAP9, ALMS1, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNB2, CALR3, CASQ2, CAV3, CAVIN4, CBL, CHRM2, CPT2, CRYAB, CSRP3, CTF1, CTNNA3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, DTNA, ELAC2, EMD, EYA4, FHL1, FHL2, FKRP, FKTN, FLNC, FXN, GAA, GATA4, GATA6, GATAD1, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KRAS, LAMA4, LAMP2, LDB3, LMNA, MAP2K1, MAP2K2, MIB1, MTO1, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, MYPN, NDUFB11, NEBL, NEXN, NF1, NKX2-5, NPPA, NRAS, PDLIM3, PKP2,

PLN, PRDM16, PRKAG2, PTPN11, RAF1, RANGRF, RASA1, RBM20, RIT1, RRAS, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SNTA1, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TGFB3, TMEM43, TMEM70, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN, TTR, TXNRD2, VCL, YWHAE.

This test is designed to detect single nucleotide variants (SNVs) and small insertions/deletions (indels). Next-Generation Sequencing (NGS) coverage may vary across the genome, potentially resulting in missed variants in regions with low coverage depth. Some genetic abnormalities may be undetectable with the current version of this test. While the DRAGEN bioinformatics pipeline demonstrates high accuracy for variant calling, there remains a possibility of false positive or false negative results due to variant interpretation which relies on current scientific knowledge and available databases. This may lead to the reclassification of reported variants as new information emerges from ongoing research and is updated in the ACMG guidelines. Furthermore, systematic chemical, computational, or human errors may contribute to false positives or false negatives of DNA variants. For any reported variants, confirmation by orthogonal technology and subsequent consultation with a genetic counselor or qualified healthcare provider can help to establish definitive risk. This result should be considered preliminary until such confirmation has been performed.

Clinical management for this individual should be based on personal and family history, along with other relevant information. If considered relevant to this individual’s clinical presentation and/or family history, targeted testing of appropriate family members of this individual for the reported variants may help to interpret these results. For assistance with the interpretation of these results, healthcare professionals may contact Psomagen directly at (301) 251-1007 or support@psomagen.com.

More Resources

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CLINICAL CAPABILITIES // Genetic testing

Cardiomyopathy