Panel on Demand

General Information

Lab Name

Exome Subpanel Test

Lab Code

EXPNL

Epic Name

Exome Subpanel Test

Description

A targeted bioinformatic masking process is applied to exome sequencing to limit analysis to a user-defined set of genes, effectively creating a custom panel-on-demand. The test includes deletion/duplication (del/dup) analysis for all genes in the selected panel. This method enables customization for a wide range of clinical indications while supporting future broader testing options without the need for resequencing.

We offer several options for panel-on-demand based on the number of genes that will be tested.

  • Hyper Panel on Demand (201-500 genes)
  • Super Panel on Demand (101-200 genes)
  • Mega Panel on Demand (11-100 genes)
  • Micro Panel on Demand (2-10 genes)
  • Single Gene Sequencing

Use the web tool at https://pod-generator.dlmp.uw.edu/ to generate a 6-character code for a custom panel.

Predefined subpanels are also ordered using the EXPNL test code. Our predefined gene panels include:

Cardiomyopathy Panel: ABCC9, ACTC1, ACTN2, ALPK3, ANKRD1, BAG3, BRAF, CASQ2, CAV3, CAVIN4, CBL, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FHL2, FKTN, FLNC, GAA, GATAD1, GLA, HRAS, ILK, JPH2, JUP, KLHL24, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MRAS, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NRAS, PDLIM3, PKP2, PLN, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN5A, SGCD, SHOC2, SOS1, TAFAZZIN, TBX20, TCAP, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TTN, TTR, VCL

Cardiac Arrhythmia Panel: ABCC9, AKAP9, ANK2, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, DES, DSC2, DSG2, DSP, EMD, FLNC, GJA5, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, MYH6, NKX2-5, NPPA, PKP2, PLN, PPA2, PRKAG2, RBM20, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SLC4A3, SNTA1, TECRL, TMEM43, TNNT2, TRDN, TRPM4, TTN

Comprehensive Cardiac Arrhythmia/Cardiomyopathy Panel: ABCC9, ACTC1, ACTN2, AKAP9, ALPK3, ANK2, ANKRD1, BAG3, BRAF, CACNA1C, CACNA1D, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CAVIN4, CBL, CDH2, CHRM2, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, DTNA, EMD, FHL1, FHL2, FKTN, FLNC, GAA, GATAD1, GJA5, GLA, GPD1L, HCN4, HRAS, ILK, JPH2, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, KLHL24, KRAS, LAMA4, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MRAS, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEBL, NEXN, NKX2-5, NPPA, NRAS, PDLIM3, PKP2, PLN, PPA2, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SGCD, SHOC2, SLC4A3, SNTA1, SOS1, TAFAZZIN, TBX20, TCAP, TECRL, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Synonyms

EXOME, Exome Singleton, Exome Trio

Components

Code Name
EXPRES Exome Subpanel Result

Interpretation

Method

Exome DNA Sequencing

Reference Range

See individual components

Ordering & Collection

Specimen Type

Blood

Collection

BLOOD is the Preferred Specimen drawn in a lavender top tube (EDTA):
Adults: 5-10cc
Children: 3-5cc
Infants: 2-3cc
If necessary, whole blood may be stored up to 5-7 days in the refrigerator before shipping.

Forms & Requisitions

GSTL Exome Panel Requisition

Handling Instructions

SPS specimen handling:

Whole blood sample: store in the refrigerator


Cultured amniocytes/chorionic villi: store at room temperature. Call the Genetics lab upon receipt (206)598-7021.


Extracted DNA: store in the refrigerator

Saliva: store at room temperature

Any other samples contact the Genetics Lab.

Processing

UW SPS: Log and forward to Genetics.

NWH, Fred Hutch, all other SPS: Send to UW SPS

Performance

LIS Dept Code

Genetics (GEN)

Performing Location(s)

UW-MT Genetics

Attention: Genetics Lab
Clinical lab, Room NW220
University of Washington Medical Center
1959 NE Pacific Street
Seattle, WA 98195

Tel: 206-598–6429 M–F (7:30 AM–4:00 PM)
Fax: 206-616-4584
Lab email: cgateam@uw.edu

Tel (EXOME only): 206-543-0459

Faculty
Jillian Buchan, PhD, FACMG
Runjun Kumar, MD, PhD
Regina Kwon, MD, MPH
Christina Lockwood, PhD, DABCC, DABMGG
Abbye McEwen, MD, PhD
Candace Myers, PhD
Colin Pritchard, MD, PhD
Vera Paulson, MD, PhD
Eric Konnick, MD, MS
He Fang, PhD

Frequency

Results in 4-6 weeks.

Available STAT?

Billing & Coding

CPT codes

Billing Comments

We offer full insurance pre-authorization services along with genetic counseling services.

Exome Single Gene Test Billing

Exome Subpanel Test Billing

LOINC

48014-5

Interfaced Order Code

UOW5873