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Test Code DCM PnlUM DCM/LVNC Gene Panel

Important Note

This panel includes 61 genes: ABCC9, ACTC1, ACTN2, ALMS1, ANKRD1, BAG3, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FKTN, GATAD1, ILK, LAMA4, LAMP2, LDB3, LMNA, MIB1, MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2, MYH6, MYH7, MYBPC3, MYPN, NEBL, NEXN, PLN, PRDM16, RAF1, RBM20, SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, TXNRD2, VCL

 

Concurrent sequencing and deletion/duplication analysis is performed for all genes except for the 13 mitochondrial genes (MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2) for which only sequencing is performed.*

 

*See test info sheet for further details regarding test methodology

Clinical System Name

DCM/LVNC Gene Panel

Synonyms

DCM/LVNC Gene Panel

Barth syndrome

Danon Disease

Dilated Cardiomyopathy (DCM)

Left Ventricular Noncompaction (LVNC)

Transthyretin Amyloidosis

Description

Nonsyndromic dilated cardiomyopathy (DCM) is characterized by left ventricular enlargement and systolic dysfunction, a reduction in the myocardial force of contraction. DCM usually presents with any one of the following:

  • Heart failure with symptoms of congestion (edema, orthopnea, paroxysmal dyspnea) and/or reduced cardiac output (fatigue, dyspnea on exertion)
  • Arrhythmias and/or conduction system disease
  • Thromboembolic disease (from left ventricular mural thrombus) including stroke

Sample Requirements

Preferred Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 2 - 5 mL

Minimum Vol: 1 mL for small infants

 

Alternative Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15 µg of purified DNA at a concentration of at least 20 µg/ml 

Minimum Vol:

 

Alternative Specimen: Oral Rinse (30-40 mL)|Buccal Swab

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location: Refrigerate in CPA refrigerator Sendouts rack. Samples drawn on a Friday can be refrigerated until Monday shipment. Samples drawn on a Friday before a Monday holiday must have DNA extraction.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole Blood Room temp 7 d
Whole Blood Refrigerated 7 d
Whole Blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT Performed TAT
N   4 w

 

Performing Laboratory

GeneDX

Department

Department:  GeneDX, 207 Perry Parkway, Gaithersburg, MD 20877
Phone Number: (301) 519-2100

Reference Range

Interpretive report is provided
 

Methodology

Method: Next-gen Sequencing and exon Array CGH

 

Concurrent sequencing and deletion/duplication analysis is performed for all genes excpt for the 13 mitochondrial genes (MTND1, MTND5, MTND6, MTTD, MTTH, MTTI, MTTK, MTTL1, MTTL2, MTTM, MTTQ, MTTS1, MTTS2) for which only sequencing is performed.

 

See test info sheet for further details

Special Instructions

Links to:

 

GeneDx

 

See test info sheet for further details

Clinical Utility

  • Confirmation of a clinical diagnosis in symptomatic patients
  • Risk assessment of asymptomatic family members of a proband with DCM/LVNC
  • Differentiation of hereditary DCM from acquired (non-genetic) causes of DCM/LVNC
  • Recurrence risk calculation

GeneReviews: Dilated Cardiomyopathy Overview

Send Out Instructions

 

Reference Test Name:

DCM/LVNC Panel

Reference Test Number: J554
Instructions: GeneDx accepts Saturday delivery. Whole blood specimens may be stored refrigerated for up to 7 days prior to shipping. Ship overnight via FedEx M - F, ambient temperature.