ColoSeq Polyposis

General Information

Lab Name

ColoSeq Polyposis

Lab Code

CSQP

Epic Ordering

ColoSeq Polyposis

Description

ColoSeq™ Polyposis is a paired polyp-germline panel that aims to discover the genetic cause of polyps in patients with unexplained colon polyposis. While many patients with adenomatous polyposis are found to have germline variants in APC, MUTYH and other genes, some patients with polyposis remain unexplained. Constitutional mosaic APC mutations have been described and current germline testing of peripheral blood and saliva has not been adequate to detect mosaic APC mutations. Uniquely, by testing colon polyps and a germline sample, ColoSeq™ Polyposis tests for constitutional mosaic mutations in APC and other genes to look for a common mutation. In a recent series of 28 patients with unexplained adenomatous polyposis, a total of 18 (64%) were found to have constitutional mosaic APC mutations detected in their colon adenomas, often also present at low allelic fraction in their germline sample (9 of 18 mosaic cases)1. ColoSeq™ Polyposis may also be useful for the evaluation of hamartomatous and juvenile polyps, serrated colon lesions and other rare polyposis syndromes.

ColoSeq™ Polyposis includes both a comprehensive pan-cancer germline analysis of 91 genes associated with hereditary cancer syndromes AND a targeted tumor assessment of select somatic and constitutionally mosaic somatic mutations to aid in the identifying the etiology of colon polyposis. The polyp analysis includes microsatellite instability, detection of loss of heterozygosity and BRAF V600E mutation.

ColoSeq™ Polyposis uses next-generation sequencing to detect most mutations in AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDK12, CDKN1B, CDKN2A, CEBPA, CHEK2, CTNNA1, CTNNB1, DDX41, DICER1, EGFR, EPCAM, ETV6, FANCM, FH, FLCN, GATA2, GEN1, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RINT1, RNF43, RPS20, RSPO3, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, SUFU, STK11, TMEM127, TP53, TSC1, TSC2, VHL, and WT1.

Testing is performed on DNA extracted from two colorectal polyps and a germline sample, using next-generation sequencing to detect somatic and germline variants in genes associated with hereditary colon cancer and polyposis. All exons and flanking intronic sequences are analyzed for all panel genes. Promoters and introns are sequenced for the mismatch repair genes and BRCA1/2. Non-coding variants of uncertain significance are assessed with RNA analysis when certain criteria are met. Select patients may be offered long range sequencing if test results suggest an undetected germline variant in a specific gene. Many patients undergoing paired tumor-germline testing have already undergone a lot of testing, and these assays are intended to provide conclusive results whenever possible.  

For an overview of available germline and paired tumor-germline testing for hereditary cancer syndromes, please see: Hereditary Cancer Test Menu: Germline and Paired Tumor-Germline guideline.

Gene	Function/Pathway	Heterozygote Cancer risk*	Associated syndrome	References (PMID)
*AKT1*	AKT signaling	Breast, Thyroid	Cowden-like	23246288
*ALK*	MYC signaling	Neuroblastoma	Cowden-like	18724359,28674118
*APC*	WNT signaling	Colon	Familial adenomatous polyposis	20301519
*ATM*	Double stranded break repair	Breast, Pancreatic	Ataxia telangiectasia (recessive)	16832357, 19781682, 22585167
*ATR*	Double stranded break repair	Oropharyngeal	Seckel (recessive)	22341969
*AXIN2*	WNT signaling	Colon	Oligodontia-colorectal cancer syndrome	15042511
*BAP1*	BRCA1-associated protein complex	Uveal Melanoma, Mesothelioma	BAP1 Tumor predisposition syndrome	21874000, 21874003
*BARD1*	BRCA1-associated protein complex	Breast, Ovarian	Hereditary breast cancer	21344236
*BMPR1A*	TGF-beta signaling	Colon	Juvenile polyposis	20301642
*BRAF*	Serine/Threonine protein kinase	Typically somatic or mosaic only	Typically somatic only, association with MLH1 promoter hypermethylation in colon cancer and Cardiofaciocutaneous syndrome when mosaic	20301365
*BRCA1*	BRCA1-associated protein complex	Breast, Ovarian	Hereditary breast and ovarian cancer	22006311, 2270482, 7545954
*BRCA2*	Fanconi/BRCA	Breast, Ovarian	Hereditary breast and ovarian cancer, Fanconi anaemia FA-D1 (recessive)	22006311, 8524414
*BRIP1*	Fanconi/BRCA	Breast, Ovarian	Fanconi anaemia FA-J (recessive)	22006311, 17033622, 21964575
*CDH1*	Cell adhesion	Breast, Gastric	Hereditary diffuse gastric cancer	20301318
*CDK4*	Cell cycle	Melanoma	Familial melanoma	19585149
*CDK12*	MAP kinase regulation	Breast, ovarian cancer, frequently somatic	Hereditary breast and ovarian cancer	24554720, 29906450, 24240700
*CDKN1B*	Cyclin-dependent kinase inhibitor 1B	Parathyroid, Pituitary	Multiple endocrine neoplasia, type IV	37733893
*CDKN2A*	Cell cycle	Pancreatic, Melanoma	Familial melanoma and pancreatic cancer	19585149
*CEBPA*	Tumor suppressor	Leukemia	Familial AML	35178345
*CHEK2*	Double stranded break repair	Breast	Hereditary breast cancer	11967536
*CTNNA1*	Beta-catenin, e-cadherin complex	Gastric	Hereditary diffuse gastric cancer	23208944
*CTNNB1*	WNT signaling	Typically somatic only	Colon cancer, endometrial cancer, desmoid tumors, colon adenomas	33115416, 37048063
*DDX41*	Splicing regulation	Leukemia, MDS	Familial MDS, AML	26712909, 34723452
*DICER1*	Tumor suppressor	Wilms tumor, pleuropulmonary blastoma	DICER1 syndrome	29343557, 28960912, 23625684
*EGFR*	Epidermal growth factor receptor	Lung	Familial lung cancer	37274482
*EPCAM*	Deletions inactivate MSH2, mismatch repair	Colon, Ovarian, Endometrial	Lynch syndrome	23938213
*ETV6*	Transcription factor in hemopoietic regulation	Leukemia, MDS	Familial thrombocytopenia, MDS, acute leukemia	28555414
*FANCM*	Fanconi/BRCA	Breast	Fanconi anemia (recessive)	25288723
FH	Tumor suppressor	Renal	Hereditary leiomyomatosis and renal cell cancer	25018647, 11865300, 25004247
*FLCN*	Tumor suppressor	Renal	Birt-Hogg-Dube syndrome. Primary spontaneous pneumothorax.	12204536, 19659657
*GATA2*	Transcription factor in hemopoietic regulation	Leukemia, MDS	Familial leukemia, MDS, immunodeficiency	38660832, 364555197
*GEN1*	Double stranded break repair	Breast	Hereditary breast cancer	20512659
*GREM1*	BMP antagonist	Colon	Hereditary mixed polyposis syndrome	22561515
*HOXB13*	Sequence-specific transcription factor which binds preferentially to methylated DNA	Prostate	Familial prostate cancer	36446039, 34799695, 34059701
*KIF1B*	Tumor suppressor	Neuroblastoma	Hereditary neuroblastoma	18334619, 24469107, 30859632
*KIT*	Proto-oncogene which encodes a tyrosine-protein kinase that acts as a cell-surface receptor for cytokine KITLG/SCF	Gastrointestinal stromal tumors (GIST), Acute myelogenous leukemia (AML)	Hereditary GIST and AML	36351335, 35821557
*LZTR1*	RAS ubiquitination/MAPK signaling	Schwannomatosis	Schwannomatosis, Noonan syndrome	24362817, 25335490
*MAX*	MYC signaling	Pheochromocytoma, Paraganglioma	Hereditary pheochromocytoma and paraganglioma (parent-of-origin effect)	21685915, 22452945
*MBD4*	Mismatch DNA repair	Uveal Melanoma, myelodysplastic disease, colon polyposis	Polyposis, multi-organ tumor predisposition (recessive)	32239153, 35460607
*MEN1*	Gene expression regulation	Endocrine	Multiple endocrine neoplasia type 1	9215689
*MET*	Tyrosine Kinase receptor	Kidney, Squamous cell carcinomas	Hereditary papillary renal cell carcinoma	11551094, 9140397, 27330189
*MITF*	Melanocyte inducing transcription factor	Kidney, Melanoma	MITF-related melanoma and renal cell carcinoma predisposition	24290354, 22012259
*MLH1*	Mismatch DNA repair	Colon, Ovarian, Endometrial	Lynch syndrome	20301390
*MLH3*	Mismatch DNA repair	Polyposis (recessive)	unknown	30573798
*MSH2*	Mismatch DNA repair	Colon, Ovarian, Endometrial	Lynch syndrome	20301390
*MSH3*	Mismatch DNA repair	Polyposis	Familial adenomatous polyposis 4 (recessive)	27476653, 35675019, 38243056
*MSH6*	Mismatch DNA repair	Colon, Endometrial	Lynch syndrome	20301390
*MUTYH*	DNA repair	Colon (homozygotes)	MUTYH-associated polyposis	20301519, 21952991
*NBN*	Double stranded break repair	Breast	Nijmegen breakage syndrome (recessive)	15185344, 9590180
*NF1*	MAPK signaling	Optic Glioma, Peripheral Nerve Sheath, Breast	Neurofibromatosis	2114220, 23165953, 20301288
*NF2*	Cellular regulation	Acoustic neuromas, Vestibular Schwannomas	Neurofibromatosis 2	20301380
*NTHL1*	Base excision repair	Colon	Polyposis (recessive)	25938944, 26431160
*PALB2*	Fanconi/BRCA	Breast, Pancreatic	Fanconi anaemia FA-N (recessive)	17200668, 17200671, 25099575
*PDGFRA*	Protein tyrosine kinase	GIST	Familial, sporadic GIST	25975287, 23036227
*PHOX2B*	Tumor suppressor	Neuroblastoma	Hereditary neuroblastoma	17637745, 28674118
*PIK3CA*	AKT signaling	Breast, Thyroid	Cowden-like	22729224, 23246288
*PMS2*	Mismatch DNA repair	Colon, Endometrial	Lynch syndrome	20301390
*POLD1*	DNA Polymerase	Colon, Endometrial	Familial polyposis, colorectal cancer	23263490, 23770608
*POLE*	DNA Polymerase	Colon	Familial polyposis, colorectal cancer	23263490
*POT1*	Telomere maintenance	Melanoma, CLL, Sarcoma, Glioma, Colon, Thyroid, Breast	Multi-organ tumor predisposition	23502782, 24686849, 28853721
*PRKAR1A*	cAMP signaling	Endocrine	Carney complex (recessive)	4010501
*PTCH1*	Hedgehog	Basal cell carcinoma, PNET	Nevoid basal cell-carcinoma syndrome	8681379, 8658145, 20301330
*PTEN*	PI3K/MAPK Signaling	Breast	Cowden syndrome	20301661
*RAD51B*	Double stranded break repair	Unknown	Hereditary breast and ovarian cancer	24139550
*RAD51C*	Fanconi/BRCA	Ovarian, Breast	Fanconi anaemia FA-O (recessive)	22006311, 22538716
*RAD51D*	Fanconi/BRCA	Ovarian, Breast	Fanconi anaemia (recessive)	21822267, 22415235
*RB1*	Tumor suppressor	Retinoblastoma, Sarcoma, Melanoma	Hereditary retinoblastoma	25621664, 22355046, 20301625
*RECQL*	DNA repair	Breast	Hereditary breast cancer	25915596
*RET*	Receptor Tyrosine Kinase	Endocrine	Multiple endocrine neoplasia type 2	20301434
*RINT1*	DNA checkpoint regulation	Breast, Colon	Multi-organ tumor predisposition	25050558
*RNF43*	WNT signaling	Colon	Sessile Serrated Polyposis	27329244, 27081527
*RPS20*	Ribosomal protein	Colon	unknown	24941021
*RSPO3*	WNT signaling	Typically somatic only	Colon cancer	29127379, 37048063
*RUNX1*	Hematopoietic stem cell regulation (transcription factor)	myelodysplastic syndrome and acute myeloid leukemia	RUNX1-familial platelet disorder	21148331
*SDHA*	Succinate dehydrogenase complex	Pheochromocytoma, Paraganglioma	Hereditary paraganglioma-pheochromoctyoma	20484225, 21752896
*SDHAF2*	Succinate dehydrogenase complex	Pheochromocytoma, Paraganglioma	Hereditary paraganglioma-pheochromoctyoma	20301715
*SDHB*	Succinate dehydrogenase complex	Pheochromocytoma, Paraganglioma	Hereditary paraganglioma-pheochromoctyoma	11404820
*SDHC*	Succinate dehydrogenase complex	Pheochromocytoma, Paraganglioma	Hereditary paraganglioma-pheochromoctyoma	11062460
*SDHD*	Succinate dehydrogenase complex	Pheochromocytoma, Paraganglioma	Hereditary paraganglioma-pheochromoctyoma	10657297
*SMAD4*	TGF-beta signaling	Colon	Juvenile polyposis	20301642
*SMARCA4*	SWI/SNF complex	Ovarian	Hereditary small cell carcinoma of the ovary, hypercalcemic	24658002
*SMARCB1*	ATP-dependent SWI/SNF chromatin remodeling complex	Schwannoma, Pediatric Rhabdoid Tumors (Kidney, CNS, Soft Tissue), Meningioma,	Schwannomatosis, rhabdoid tumor predisposition syndrome type 1	28109176, 29706634
*SMARCE1*	DNA repair and replication	Spinal meningioma	Familial spinal meningioma	23377182
*STK11*	Tumor suppressor	Breast, Colon, Pancreatic, Gastric, Hamartomas	Peutz-Jeghers syndrome	20301443
*SUFU*	Hedgehog Signaling	Basal cell carcinoma, medulloblastoma, meningioma, gonadal tumours	Nevoid basal cell-carcinoma syndrome (Gorlin syndrome)	19533801, 35768194
*TMEM127*	Tumor suppressor	Pheochromocytoma, Paraganglioma	Hereditary paraganglioma-pheochromocytoma	20301715
*TP53*	Cell growth	Breast, Ovarian	Li-Fraumeni syndrome	22006311,20301488
*TSC1*	Cell growth	Hamartomas	Tuberous sclerosis complex	10227394, 9924605, 17287951
*TSC2*	Cell growth	Hamartomas	Tuberous sclerosis complex	8825048, 9829910
*VHL*	p53 regulation	Kidney, Neuroendocrine	von Hippel-Lindau syndrome	20301636
*WT1*	WT1 transcription factor	Wilms tumor	Wilms tumor	15150775

For information on the tumor-germline paired ColoSeq™ Tumor Panel and ColoSeq Tumor Single Gene assays for unexplained mismatch repair deficiency see ColoSeq Tumor Panel [CSQTP] and ColoSeq Tumor Single Gene [CSQTS].

For previous versions of ColoSeq™ - Lynch and Polyposis Panel, see ColoSeq - Lynch and Polyposis Panel [COSEQ]

References

Jacobson AL, et al. Utility of adenomatous polyp testing for detection of constitutional mosaic APC mutations in unexplained polyposis patients. Collaborative Group of Americas on Inherited Gastrointestinal Cancer, 2021 Annual Meeting, plenary abstract presentation
Pritchard CC, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012, 14:357-66. 22658618
Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
Li J et al. Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Am J Hum Genet 2016 May, 5;98(5):830-842. 27087319

Forms & Requisitions

Requisition Form and Ordering Instructions:

1. Fill out a Genetics Requisition form

2. Under “Check Test Requested,” check: "ColoSeq™ – Polyposis/CSQP"

Genetics Preauthorization Form (preauthorization is only available for providers who are external to the UW system).

Synonyms

AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CDK4, CDKN1B, CDKN2A, CEBPA, CHEK2, colon polyposis, constitutional mosaicism, CTNNA1, CTNNB1, DDX41, DICER1, EGFR, EPCAM, ETV6, familial adenomatous polyposis, FANCM, FAP, FH, FLCN, GATA2, GEN1, germline mosaicism, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1, MLH3, mosaicism, MSH2, MSH3, MSH6, MUTYH, MYH-associated polyposis, NBN, Next-generation sequencing, NF1, NF2, NTHL1, paired tissue testing, paired tumor testing, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, polyps, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RINT1, RNF43, RPS20, RSPO3, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL, WT1 Colon cancer

Components

Code	Name
CSQPGS	ColoSeq Genes Sequenced
CSQPRE	ColoSeq Result
CSQPIN	ColoSeq Interpretation
CSQPCH	ColoSeq Clinical History
CSQPMT	ColoSeq Method
CSQPDI	ColoSeq Director

Interpretation

Method

Next-generation sequencing.

This assay sequences all exons, flanking intronic splice site sequences, and select promoter regions of AKT1, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BMPR1A, BRAF, BRCA1*, BRCA2*, BRIP1, CDH1, CDK4, CDK12, CDKN1B, CDKN2A, CEBPA, CHEK2, CTNNA1, CTNNB1, DDX41, DICER1, EGFR, EPCAM, ETV6, FANCM, FH, FLCN, GATA2, GEN1, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MBD4, MEN1, MET, MITF, MLH1*, MLH3, MSH2*, MSH3, MSH6*, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2*, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51B, RAD51C, RAD51D, RB1, RECQL, RET, RNF43, RPS20, RSPO3, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, SUFU, STK11, TMEM127, TP53, TSC1, TSC2, VHL, and WT1.
Gene introns are also sequenced for genes indicated above with an asterisk (*).

Sequences are aligned to the human genome reference (hg19). Test performed by targeted capture for listed genes followed by next-generation sequencing with Illumina technology. This test was developed and its performance characteristics determined by the University of Washington Department of Laboratory Medicine. It has not been cleared or approved by the US Food and Drug Administration. This laboratory is certified under the Clinical Laboratory Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing. This test is used for clinical purposes. It should not be regarded as investigational or for research.

Reference Range

See individual components

Ref. Range Notes

No mutations detected

References

Jacobson AL, et al. Utility of adenomatous polyp testing for detection of constitutional mosaic APC mutations in unexplained polyposis patients. Collaborative Group of Americas on Inherited Gastrointestinal Cancer, 2021 Annual Meeting, plenary abstract presentation
Pritchard CC, et al. ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. J Mol Diagn 2012, 14:357-66. 22658618
Walsh T, et al. Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing. Proc Natl Acad Sci U S A 2010, 107:12629-33. 20616022
Nord AS, Lee M, King MC, and Walsh T. Accurate and exact CNV identification from targeted high-throughput sequence data. BMC Genomics 2011, 12:184. 21486468
Metzker ML. Sequencing technologies - the next generation. Nat Rev Genet 2010, 11:31-46. 19997069
Li J et al. Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. Am J Hum Genet 2016 May, 5;98(5):830-842. 27087319

Ordering & Collection

Specimen Type: Formalin-Fixed Paraffin Embedded Tumor Tissue (FFPE), Purified DNA, Peripheral Blood, cultured cells from skin biopsy, purified DNA from peripheral blood or cultured cells, saliva
Collection: Two polyp specimens will be requested directly, by UW Laboratory Medicine, from the originating pathology department. In order to facilitate this, a pathology report should be submitted with the test requisition, blood control and other clinical and billing paperwork.

NOTE: This test requires BOTH polyp tissues and a germline specimen (peripheral blood, saliva or normal tissue). Only polyp tissues are required if ColoSeq™ testing on a germline specimen has been done previously at UW Lab Medicine.

1) Two Polyp Tissues:

Polyp specimens will be requested directly, by UW Laboratory Medicine, from the originating pathology department. In order to facilitate this, a pathology report should be submitted with the test requisition, blood control and other clinical and billing paperwork.

If the polyp specimens are being submitted by the ordering provider, tissue samples (FFPE) either (a) slides, OR (b) tissue block are required.

(a) Instructions for slide specimens: 1 slide at 4-micron thickness stained with hematoxylin-and-eosin AND 20 unstained, non-baked slides at 10-micron thickness (a minimum of 10 unstained slides is acceptable). Unstained slides can be on charged or uncharged slides. Note: Sections should contain as much tumor tissue as possible.

(b) Instructions for tissue block specimen: Provide complete tissue block containing tumor tissue. If there is more than one tissue block, please provide the block that has the greatest amount of adenomatous tissue. Tissue block will be returned at completion of testing. Ship at room temperature.

NOTE: If germline MMR testing was performed in a different laboratory, a germline sample should be submitted in addition to polyp tissue.

2) Germline control sample:

BLOOD:

· 10 mL whole blood in LAVENDER TOP EDTA tube.

· Also acceptable: YELLOW TOP ACD tube, purified DNA from peripheral blood or cultured cells.

SALIVA:

· Contact laboratory for validated collection kit.

SKIN BIOPSY:

· Collection and transport: Obtain 2-4 mm punch biopsy of skin sample under sterile conditions and place in transport media (e.g. Alpha-MEM media, RPMI). Transport media can be supplied by the lab; call 206-598-4488 to request. If transport media is not available, the following media are acceptable alternatives if shipping time will not exceed 24 hours: lactated Ringer's solution, viral transport medium, or sterile saline. DO NOT USE formaldehyde, formalin, alcohol, or 5% dextrose, or tissue culture medium buffered with bicarbonate.

CULTURED CELLS:

· (2) T23 or (1) T75 flask (minimum 1-T25 flask).
Forms & Requisitions: Requisition Form and Ordering Instructions:

1. Fill out a Genetics Requisition form

2. Under “Check Test Requested,” check: "ColoSeq™ – Polyposis/CSQP"

Genetics Preauthorization Form (preauthorization is only available for providers who are external to the UW system).
Handling Instructions: Ship specimen at room temperature for overnight delivery. Specimen can be held for up to 7 days before shipping if refrigerated.

Ship specimens to:

UW MEDICAL CENTER

LABORATORY MEDICINE - GENETICS LAB

1959 NE PACIFIC ST, ROOM NW220

SEATTLE, WA 98195-7110
Quantity: requested: Entire sample
minimum: 5 mL whole blood

Processing

Processing: Blood: Refrigerate whole blood

Unacceptable Conditions: Frozen or clotted specimens

Stability (collection to initiation of testing): Ambient: 5 days; Refrigerated: 7 days; Frozen: Unacceptable

Purified DNA: Refrigerate DNA specimens. Frozen is acceptable.

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 Colin Pritchard, MD, PhD Vera Paulson, MD, PhD Eric Konnick, MD, MS He Fang, PhD

Frequency

Results within 4 weeks, once sample arrives in the laboratory.

Available STAT?

Billing & Coding

CPT codes
Billing Comments: For additional test/billing information, see following page, CPT codes for Hereditary Cancer Panels (germline and paired).

For pricing information, contact Client Support Services 206-520-4600 or 800-713-5198.

Billing and Insurance Pre-Authorization

We offer insurance pre-authorization services (preauthorization is only done for providers who are external to the UW system).

Email: gpab@uw.edu or call 1-855-320-4869 for more information.

Genetics Preauthorization Form
LOINC: 51967-8
Interfaced Order Code: UOW5550