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Test Code HCM Pnl HCM Gene Panel

Important Note

This panel includes 25 genes: ACTC1, ACTN2, CAV3, CSRP3, FHL1, GLA, JPH2, LAMP2, MTTG, MTTI, MTTK, MTTQ, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTR, VCL

 

Concurrent sequencing and deletion/duplication analysis is performed for all genes except for the MTTG, MTTI, MTTK and MTTQ genes for which only sequencing is performed.*

 

*See test info sheet for further details regarding test methodology

Additional Codes

HCM Gene Panel

Clinical System Name

HCM Gene Panel

 

Synonyms

Hypertrophic Cardiomyopathy (HCM)

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: 2-6 C

Storage location: Do not spin. Affix large Cerner labels to tubes and place in refrigerator send-outs rack.  Store extra labels and copy of requisition in the clear plastic box attached to CPA refrigerator. Alert Send-outs team.

 

Off-site collection:

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 wks

 

Performing Laboratory

GeneDx

Department

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

Reference Range

Interpretive report provided.
 

Methodology

Method: Next-gen Sequencing and exon Array CGH

 

Concurrent sequencing and deletion/duplication analysis is performed for all genes except for the MTTG, MTTI, MTTK and MTTQ genes for which only sequencing is performed.*

 

*See test info sheet for further details regarding test methodology

Special Instructions

Links to:


GeneDx

 

Test info sheet

Send Out Instructions

 

Reference Test Name: HCM Panel
Reference Test Number: J553
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.