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Cancer Panel

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
AIP 81479,81479
ALK 81479,81479
ANKRD26 81479,81479
APC 81201,81203
ARMC5 81479,81479
ATM 81408,81479
AXIN2 81479,81479
BAP1 81479,81479
BARD1 81479,81479
BLM 81479,81479
BMPR1A 81479,81479
BRCA1 and BRCA2 81162
BRIP1 81479,81479
CDC73 81479,81479
CDH1 81406,81479
CDK4 81479,81479
CDKN1B 81479,81479
CDKN1C 81479,81479
CDKN2A 81404,81479
CEBPA 81218,81479
CHEK1 81479,81479
CHEK2 81479,81479
CTNNA1 81479,81479
CYLD 81479,81479
DDX41 81479,81479
DICER1 81479,81479
DIS3L2 81479,81479
DLST 81479,81479
DROSHA 81479,81479
EPCAM 81479,81403
ETV6 81479,81479
EXT1 81479,81479
EXT2 81479,81479
FAN1 81479,81479
FANCA 81479,81479
FANCC 81479,81479
FANCM 81479,81479
FH 81405,81479
FLCN 81479,81479
FOCAD 81479,81479
GALNT12 81479,81479
GATA2 81479,81479
GPC3 81479,81479
GREM1 81479,81479
HOXB13 81479,81479
HRAS 81404,81479
KIF1B 81479,81479
KIT 81479,81479
LZTR1 81479,81479
MAX 81479,81479
MEN1 81405,81404
MET 81479,81479
MITF 81479,81479
MLH1 81292,81294
MLH3 81479,81479
MRE11 81479,81479
MSH2 81295,81297
MSH3 81479,81479
MSH6 81298,81300
MUTYH 81406,81479
NBN 81479,81479
NF1 81408,81479
NF2 81406,81405
NTHL1 81479,81479
PALB2 81307,81479
PALLD 81479,81479
PDGFRA 81479,81479
PHOX2B 81404,81403
PIK3CA 81479,81479
PMS2 81317,81319
POLD1 81479,81479
POLE 81479,81479
POT1 81479,81479
PRKAR1A 81479,81479
PTCH1 81479,81479
PTCH2 81479,81479
PTEN 81321,81323
RAB43 81479,81479
RABL3 81479,81479
RAD1 81479,81479
RAD50 81479,81479
RAD51C 81479,81479
RAD51D 81479,81479
RB1 81479,81479
RECQL 81479,81479
RECQL4 81479,81479
RECQL5 81479,81479
REST 81479,81479
RET 81406,81479
RUNX1 81479,81479
SAMD9 81479,81479
SAMD9L 81479,81479
SDHA 81406,81479
SDHAF2 81479,81479
SDHB 81405,81479
SDHC 81405,81404
SDHD 81404,81479
SMAD4 81406,81405
SMARCA4 81479,81479
SMARCB1 81479,81479
SMARCE1 81479,81479
SRP72 81479,81479
STK11 81405,81404
SUFU 81479,81479
TERC 81479,81479
TERT 81479,81479
TMEM127 81479,81479
TP53 81405,81479
TP53I3 81479,81479
TRIP13 81479,81479
TSC1 81406,81405
TSC2 81407,81406
VHL 81404,81403
WRN 81479,81479
WT1 81405,81479
XRCC2 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5471Genes x (117)81479 81162(x1), 81201(x1), 81203(x1), 81218(x1), 81292(x1), 81294(x1), 81295(x1), 81297(x1), 81298(x1), 81300(x1), 81307(x1), 81317(x1), 81319(x1), 81321(x1), 81323(x1), 81403(x3), 81404(x8), 81405(x10), 81406(x8), 81407(x1), 81408(x2), 81479(x184) $1290 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Yuan Xue, PhD

Clinical Features and Genetics

Clinical Features

Hereditary cancer syndromes have been observed in approximately 5-10% of diagnosed cancers (Mauer et al. 2013. PubMed ID: 24113346). Hereditary cancers tend to occur at an earlier age (<50 years), and tumors often occur bilaterally or are multifocal. Multiple family members are often affected. Hereditary cancers may include a less frequently affected gender (breast cancer in males), can be associated with other clinical features, and occur with a higher predisposition in specific ethnicities, such as the Ashkenazi Jewish population (Lindor et al. 2008. PubMed ID: 18559331).

The results of testing for a group of hereditary cancers can be important for counseling, screening and treatment (O’Daniel and Lee. 2012. PubMed ID: 22846728; Imyanitov and Byrski. 2013. PubMed ID: 23548133). Additionally, assessment of multiple genes associated with hereditary cancers can be useful in determining personal or familial risks (Foulkes. 2008. PubMed ID: 19005198).


Genes involved in multiple hereditary cancer syndromes are mostly inherited in an autosomal dominant manner. As several types of cancers may be found in one pedigree, this test may help in the differential diagnosis and rule out particular syndromes by simultaneously analyzing multiple genes involved in hereditary cancers.

Phenotype clusters from this panel include: breast cancer, colorectal cancer, endocrine cancer, endometrial cancer, gastric cancer, melanoma predisposition, neurological tumors, ovarian cancer, pancreatic cancer, paraganglioma and pheochromocytoma, pediatric cancer, polyposis, prostate cancer, renal cancer, sarcoma, and thyroid cancer.

See individual gene summaries for more information about molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PG-Select

Genes tested in this panel have been implicated in hereditary cancer, and although individually these genes may be involved in a minority of cancers, the combination of highly, moderately, and mildly penetrant pathogenic variants may be responsible for a significant portion of hereditary cancers.

Clinical sensitivity for this panel is highly dependent on the type of cancer, specific ethnicity, and age of patients.

One study of 227 individuals with a personal or family history of cancer undergoing multigene panel testing found that 12% of individuals had a pathogenic variant and 29.5% had a variant of uncertain significance (Hermel et al. 2017. PubMed ID: 27401692). Changes in medical care due to panel testing results occurred in approximately 13% of cases.

Another study of 10,000 patients with various cancers referred for multigene panel testing found a molecular diagnosis in 9% of patients tested (Susswein et al. 2016. PubMed ID: 26681312). Positive rates were found in 9.7%, 13.4%, and 14.8% for patients with breast, ovarian, or colon/stomach cancer, respectively.

Clinical sensitivity of commonly tested genes is given based on each disorder:

CHEK2-related Cancers: Pathogenic CHEK2 sequence variants are reported in hereditary breast cancer and have been reported in 4.5% of cases (Castéra et al. 2014. PubMed ID: 24549055).

Familial Adenomatous Polyposis (FAP): Pathogenic APC sequence variants are found in >90% of individuals with FAP (Laken et al. 1999. PubMed ID: 10051640). Gross deletions/duplications have been reported in up to 12% of APC patients (Jasperson et al. 2017. PubMed ID: 20301519).

Hereditary Breast and Ovarian Cancer (HBOC): The overall prevalence of germline BRCA1 or BRCA2 pathogenic variants in the general population is 1:400 to 1:800, with higher rates depending on the specific ethnicity, such as 1:40 in the Ashkenazi Jewish population. Nucleotide substitutions and small insertions or deletions are found in about 90% of individuals with an identifiable pathogenic variant. For individuals with pathogenic variants in these genes, BRCA1 variants were observed in 63% and BRCA2 variants in 37% (Petrucelli et al. 2016. PubMed ID: 20301425). Copy number variants (CNVs) are found in approximately 10% of individuals with an identifiable BRCA1/2 germline pathogenic variant, with 90% of these in BRCA1 and 10% in BRCA2 (Petrucelli et al. 2016. PubMed ID: 20301425).

A study by Walsh et al (2011) found approximately 6% of patients with hereditary ovarian cancers who do not have pathogenic variants in BRCA1 or BRCA2 have pathogenic variants in genes such as BARD1, BRIP1, CHEK2, MRE11, NBN, PALB2, RAD50, RAD51C, and TP53 (Walsh et al. 2011. PubMed ID: 22006311). Another study by Castéra et al. found that around a third of the deleterious variants identified in their patient cohort were in genes outside of BRCA1/2, including CDH1, CHEK2, PALB2, and TP53 (Castéra et al. 2014. PubMed ID: 24549055). HBOC-associated gross deletions have been reported for the RAD51C (Vuorela et al. 2011. PubMed ID: 21750962), PALB2 (Antoniou et al. 2014. PubMed ID: 25099575), and TP53 (Melhem-Bertrandt et al. 2012. PubMed ID: 21761402) genes.

Hereditary Diffuse Gastric Cancer (HDGC): The clinical sensitivity of pathogenic CDH1 sequence variants is 30% for HDGC families (Carneiro et al. 2007. PubMed ID: 17513507). Large deletions have been detected in the CDH1 gene in up to 4% of patients (Kaurah and Huntsman. 2014. PubMed ID: 20301318).

Hereditary Paraganglioma-Pheochromocytoma Syndrome: Although the majority of hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome tumors are sporadic (non-familial), approximately 13% of all PGL/PCC tumors are caused by germline pathogenic variants in known PGL/PCC syndrome genes (Welander et al. 2011. PubMed ID: 22041710).

Juvenile Polyposis Syndrome (JPS): This test is predicted to identify a pathogenic BMPR1A sequence variant in 11-22% and a pathogenic SMAD4 sequence variant in 20-26% of patients diagnosed with JPS. Deletion/duplication analysis is predicted to identify a BMPR1A pathogenic variant in 1-2% and a SMAD4 pathogenic variant in 2-9% of patients diagnosed with JPS (Larsen Haidle and Howe. 2017. PubMed ID: 20301642).

Li-Fraumeni Syndrome: Sequencing the TP53 gene can detect approximately 95% of patients with Li-Fraumeni syndrome. Deletions in the TP53 gene have been detected in 1% of Li-Fraumeni cases (Schneider et al. 2013. PubMed ID: 20301488).

Lynch Syndrome: Depending on the clinical criteria used to make a diagnosis (Amsterdam or “Revised Bethesda”), 30-50% and 15-20% of Lynch patients have a detectable pathogenic MLH1 and MSH2 sequence variant, respectively (Syngal et al. 2000. PubMed ID: 10978352). A pathogenic sequence variant in MSH6 is detected in <2% of patients that meet the stringent Amsterdam I criteria but is detected in ~12% of atypical Lynch/HNPCC families (Peltomäki and Vasen. 2004. PubMed ID: 15528792). A pathogenic PMS2 sequence variant is detected in 1-2% of Lynch patients (Peltomäki and Vasen. 2004. PubMed ID: 15528792) and ~50% of constitutional mismatch repair-deficiency patients (Wimmer and Etzler. 2008. PubMed ID: 18709565). The clinical sensitivity of EPCAM sequence variants in Lynch syndrome is unknown as no pathogenic sequence variants have been reported for this disease; however, sequence variants in the EPCAM gene are known to be causative for congenital tufting enteropathy. The clinical sensitivity of EPCAM deletions is 1-3% of individuals with Lynch syndrome (Idos and Valle. 2021. PubMed ID: 20301390). Lynch syndrome is attributed to deletions in the MLH1, MSH2, MSH6, and PMS2 genes in approximately 5%, 20%, 7%, and 20% of cases, respectively (Idos and Valle. 2021. PubMed ID: 20301390).

Melanoma: 25-50% of familial melanoma cases have causative germline variants in CDKN2A, and there is a 1-3% chance that an individual with primary melanoma has a causative germline variant in CDKN2A (Nelson and Tsao. 2009. PubMed ID: 19095153; Ibrahim et al. 2009. PubMed ID: 19400696). Only 2% of the families in the Geno-MEL study carried CDK4 pathogenic variants (Goldstein et al. 2006. PubMed ID: 17047042). Clinical sensitivity for CDKN2A and CDK4 deletions/duplications is not currently known.

Multiple Endocrine Neoplasia type 2 and Familial Medullary Thyroid Carcinoma: This test is predicted to detect pathogenic variants in >95% of cases (Marquard and Eng. 2015. PubMed ID: 20301434).

MUTYH-Associated Polyposis: By definition, nearly all (~99%) MAP patients have biallelic germline pathogenic variants in MUTYH. However, pathogenic variants in MUTYH are also found in ~25% of patients initially diagnosed with familial adenomatous polyposis (FAP; Sampson et al. 2003. PubMed ID: 12853198). Clinical sensitivity for MUTYH deletions/duplications is not currently known.

Pancreatic Cancer: Pathogenic ATM heterozygous variants in familial pancreatic cancer can be observed in up to 5% individuals (Bartsch et al. 2012. PubMed ID: 22664588; Solomon et al. 2012. PubMed ID: 23187834). Pathogenic variants in BRCA1, BRCA2, and CDKN2A have recently been reported in 1.2%, 3.7%, and 2.5% of individuals, respectively, in a study of familial pancreatic cancer (Zhen et al. 2015. PubMed ID: 25356972). One large study showed that 21% of individuals or families with Lynch syndrome had at least one case of pancreatic cancer (Kastrinos et al. 2009. PubMed ID: 19861671).

Peutz-Jeghers Syndrome: Approximately 55% of patients with a positive family history and 70% of patients with no family history of Peutz-Jeghers syndrome will be detected by STK11 sequencing. Approximately 45% of patients with a positive family history or 21% of patients with no family history of Peutz-Jeghers syndrome will have a pathogenic variant in STK11 by deletion analysis (McGarrity et al. 2016. PubMed ID: 20301443).

POLD1 and POLE Colorectal Cancer Predisposition: Pathogenic sequence variants in the POLD1 and POLE genes have been observed in 0.2% and 0.3-0.6% of individuals with colorectal cancer, respectively (Chubb et al. 2015. PubMed ID: 25559809).

Prostate Cancer: In a recent study of 692 men with documented metastatic prostate cancer, pathogenic variants in these genes were identified, including ATM (11 pathogenic variants [13% of total]), BRCA1 (6 [7%]), BRCA2 (37 [44%]), CHEK2 (10 [12%]), and PALB2 (3 [4%]; Pritchard et al. 2016. PubMed ID: 27433846).

PTEN Hamartoma Syndrome: This test is predicted to detect causative PTEN pathogenic variants in ~80% of patients with Cowden syndrome (CS), ~65% of patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS) and ~20% of patients with Proteus syndrome (PS). Large deletions are predicted to be detected in ~11% of patients with BRRS, but the sensitivity is not known for other PTEN related disorders (Eng 2003. PubMed ID: 12938083).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.9% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

The PHOX2B exon 3 polyalanine region is not covered.

This panel also includes testing for the inversion of exons 1-7 in MSH2.

Deletion and duplication testing for STK11, NF1, and PMS2 is performed using NGS, but CNVs detected in these genes are confirmed via multiplex ligation-dependent probe amplification (MLPA).

DNA analysis of the PMS2 gene is complicated due to the presence of several pseudogenes. One particular pseudogene, PMS2CL, has high sequence similarity to PMS2 exons 11 to 15 (Blount et al. 2018. PubMed ID: 29286535). Next-generation sequencing (NGS) based copy number variant (CNV) analysis can detect deletions and duplications involving exons 1 to 10 of PMS2 but has less sensitivity for exons 11 through 15. Multiplex ligation-dependent probe amplification (MLPA) can detect deletions and duplications involving PMS2 exons 1 to 15. Of note, PMS2 MLPA is not typically included in this test but can be ordered separately using test code 6062, if desired. 

Of note, Next Generation Sequencing analysis of the SDHA gene is technically challenging due to the presence of segmental duplications and paralogy. Therefore, analysis of CNVs in this region is not included in this test.

Indications for Test

Individuals with a clinical presentation of a cancer syndrome or a family history of cancer are candidates. Clinical presentation or family history includes early-onset cancer, multiple primary cancers, multiple family members with cancer, and individuals of Ashkenazi descent with a concern for cancer. Earlier detection of tumors will often lead to better outcomes. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations in tumor tissue.


Official Gene Symbol OMIM ID
AIP 605555
ALK 105590
ANKRD26 610855
APC 611731
ARMC5 615549
ATM 607585
AXIN2 604025
BAP1 603089
BARD1 601593
BLM 604610
BMPR1A 601299
BRCA1 113705
BRCA2 600185
BRIP1 605882
CDC73 607393
CDH1 192090
CDK4 123829
CDKN1B 600778
CDKN1C 600856
CDKN2A 600160
CEBPA 116897
CHEK1 603078
CHEK2 604373
CTNNA1 116805
CYLD 605018
DDX41 608170
DICER1 606241
DIS3L2 614184
DLST 126063
DROSHA 608828
EPCAM 185535
ETV6 600618
EXT1 608177
EXT2 608210
FAN1 613534
FANCA 607139
FANCC 613899
FANCM 609644
FH 136850
FLCN 607273
FOCAD 614606
GALNT12 610290
GATA2 137295
GPC3 300037
GREM1 603054
HOXB13 604607
HRAS 190020
KIF1B 605995
KIT 164920
LZTR1 600574
MAX 154950
MEN1 613733
MET 164860
MITF 156845
MLH1 120436
MLH3 604395
MRE11 600814
MSH2 609309
MSH3 600887
MSH6 600678
MUTYH 604933
NBN 602667
NF1 613113
NF2 607379
NTHL1 602656
PALB2 610355
PALLD 608092
PDGFRA 173490
PHOX2B 603851
PIK3CA 171834
PMS2 600259
POLD1 174761
POLE 174762
POT1 606478
PRKAR1A 188830
PTCH1 601309
PTCH2 603673
PTEN 601728
RAB43 0
RAD1 603153
RAD50 604040
RAD51C 602774
RAD51D 602954
RB1 614041
RECQL 600537
RECQL4 603780
RECQL5 603781
REST 600571
RET 164761
RUNX1 151385
SAMD9 610456
SAMD9L 611170
SDHA 600857
SDHAF2 613019
SDHB 185470
SDHC 602413
SDHD 602690
SMAD4 600993
SMARCA4 603254
SMARCB1 601607
SMARCE1 603111
SRP72 602122
STK11 602216
SUFU 607035
TERC 602322
TERT 187270
TMEM127 613403
TP53 191170
TP53I3 605171
TRIP13 604507
TSC1 605284
TSC2 191092
VHL 608537
WRN 604611
WT1 607102
XRCC2 600375
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Acute Lymphoblastic Leukemia undefined 613065
Adenomatous Polyposis Coli AD 175100
Aml - Acute Myeloid Leukemia AD 601626
Ataxia-Pancytopenia Syndrome AD 159550
Ataxia-Telangiectasia-Like Disorder AR 604391
Atrial Myxoma, Familial AD 255960
Bannayan-Riley-Ruvalcaba Syndrome AD 153480
Beckwith-Wiedemann Syndrome AD 130650
Birt-Hogg-Dube Syndrome AD 135150
Bloom Syndrome AR 210900
Bone Marrow Failure Syndrome 1 AD 614675
Breast-Ovarian Cancer, Familial 1 AD 604370
Breast-Ovarian Cancer, Familial 2 AD 612555
Breast-Ovarian Cancer, Familial 3 undefined 613399
Breast-Ovarian Cancer, Familial 4 AD 614291
Carney Complex, Type 1 AD 160980
Colorectal Cancer 1 AD 608812
Colorectal cancer, susceptibility to, 10 AD 612591
Colorectal cancer, susceptibility to, 12 AD 615083
Costello Syndrome AD 218040
Cowden Disease AD 158350
Cowden syndrome 5 615108
Cutaneous Malignant Melanoma 1 AD 155600
Cylindromatosis, Familial AD 132700
Exostoses, Multiple, Type I AD 133700
Exostoses, Multiple, Type II AD 133701
Familial Adenomatous Polyposis 3 AR 616415
Familial Adenomatous Polyposis 4 AR 617100
Familial Medullary Thyroid Carcinoma AD 155240
Fanconi Anemia, Complementation Group A AR 227650
Fanconi Anemia, Complementation Group C AR 227645
Fanconi Anemia, Complementation Group J AR 609054
Fanconi Anemia, Complementation Group N AR 610832
Fanconi Anemia, Complementation Group O AR 613390
Fanconi Anemia, Complementation Group U AR 617247
Fumarase Deficiency AR 606812
Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial undefined 175510
Gastrointestinal Stromal Tumors AD 606764
Glioma Susceptibility 9 AD 616568
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors AD 138800
Gorlin Syndrome AD 109400
Hereditary Diffuse Gastric Cancer AD 137215
Hereditary Leiomyomatosis And Renal Cell Cancer AD 150800
Hereditary Mixed Polyposis Syndrome 2 AD 610069
Hereditary Nonpolyposis Colorectal Cancer Type 4 AD 614337
Hereditary Nonpolyposis Colorectal Cancer Type 5 AD 614350
Hereditary Nonpolyposis Colorectal Cancer Type 7 AD 614385
Hereditary Nonpolyposis Colorectal Cancer Type 8 AD 613244
Hyperparathyroidism 1 AD 145000
Hyperparathyroidism 2 AD 145001
Juvenile Myelomonocytic Leukemia undefined 607785
Juvenile Polyposis Syndrome AD 174900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome AD 175050
Li-Fraumeni Syndrome AD 151623
Lynch Syndrome I AD 120435
Lynch Syndrome II AD 609310
Medulloblastoma AD 155255
Melanoma Astrocytoma Syndrome AD 155755
Melanoma, Cutaneous Malignant 2 AD 155601
Melanoma, Cutaneous Malignant 3 AD 609048
Melanoma, Cutaneous Malignant, Susceptibility to, 10 undefined 615848
Melanoma, cutaneous malignant, susceptibility to, 8 AD 614456
Melanoma-Pancreatic Cancer Syndrome AD 606719
Meningioma, Familial AD 607174
MIRAGE syndrome AD 617053
Mismatch repair cancer syndrome 4 undefined 619101
Monosomy 7 myelodysplasia and leukemia syndrome 1 undefined 252270
Monosomy 7 myelodysplasia and leukemia syndrome 2 AD 619041
Mosaic Variegated Aneuploidy Syndrome 3 undefined 617598
Multiple Endocrine Neoplasia, Type 1 AD 131100
Multiple Endocrine Neoplasia, Type 2A AD 171400
Multiple Endocrine Neoplasia, Type 2B AD 162300
Multiple Endocrine Neoplasia, Type IV AD 610755
Myelodysplastic Syndrome undefined 614286
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility to AD 616871
Myh-Associated Polyposis AR 608456
Neuroblastoma 1 AD 256700
Neuroblastoma 2 AD 613013
Neuroblastoma 3 AD 613014
Neurofibromatosis, Familial Spinal undefined 162210
Neurofibromatosis, Type 1 AD 162200
Neurofibromatosis, Type 2 AD 101000
Neurofibromatosis-Noonan Syndrome undefined 601321
Nijmegen Breakage Syndrome AR 251260
Nijmegen Breakage Syndrome-Like Disorder AR 613078
Noonan Syndrome 10 AD 616564
Noonan syndrome 2 undefined 605275
Oligodontia-Colorectal Cancer Syndrome AD 608615
Pancreatic Cancer 1 AD 606856
Pancreatic Cancer 2 AD 613347
Pancreatic Cancer 3 AD 613348
Pancreatic Cancer 4 AD 614320
Paraganglioma And Gastric Stromal Sarcoma AD 606864
Paragangliomas 2 AD 601650
Paragangliomas 3 AD 605373
Paragangliomas 4 AD 115310
Paragangliomas 5 AD 614165
Paragangliomas 7 AD 618475
Parathyroid Carcinoma AD 608266
Perlman Syndrome AR 267000
Peutz-Jeghers Syndrome AD 175200
Pheochromocytoma AD 171300
Pigmented Nodular Adrenocortical Disease, Primary, 1 AD 610489
Pituitary Adenoma, Growth Hormone-Secreting AD 102200
Pleuropulmonary Blastoma AD 601200
Primary Macronodular Adrenal Hyperplasia AD 615954
Prostate Cancer AD 176807
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1; PFBMFT1 AD 614742
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2 AD 614743
Renal Cell Carcinoma, Papillary, 1 AD 605074
Retinoblastoma AD 180200
Rhabdoid Tumor Predisposition Syndrome 1 AD 609322
Rhabdoid Tumor Predisposition Syndrome 2 AD 613325
Rothmund-Thomson Syndrome AR 268400
Schwannomatosis 1 AD 162091
Schwannomatosis 2 AD 615670
Simpson-Golabi-Behmel Syndrome AD 312870
Spiegler-Brooke Syndrome AD 605041
Thrombocytopenia 2 AD 188000
Thrombocytopenia 5 AD 616216
Thrombocytopenia, Familial, With Propensity To Acute Myelogenous Leukemia AD 601399
Trichoepithelioma Multiple Familial 1 AD 601606
Tuberous Sclerosis 1 AD 191100
Tuberous Sclerosis 2 AD 613254
Tumor Predisposition Syndrome AD 614327
Tumoral Calcinosis, Normophosphatemic, Familial AR 610455
Werner Syndrome AR 277700
Wilms Tumor 6, Susceptibility to AD 616806
Wilms' Tumor AD 194070
{?Pancreatic cancer, susceptibility to, 5} AD 618680

Related Tests

Melanoma Panel
Renal Cancer Panel


  • Antoniou et al. 2014. PubMed ID: 25099575
  • Bartsch et al. 2012. PubMed ID: 22664588
  • Carneiro et al. 2007. PubMed ID: 17513507
  • Castéra et al. 2014. PubMed ID: 24549055
  • Chubb et al. 2015. PubMed ID: 25559809
  • Eng. 2003. PubMed ID: 12938083
  • Foulkes. 2008. PubMed ID: 19005198
  • Goldstein et al. 2006. PubMed ID: 17047042
  • Hermel et al. 2017. PubMed ID: 27401692
  • Ibrahim et al. 2009. PubMed ID: 19400696
  • Idos and Valle. 2021. PubMed ID: 20301390
  • Imyanitov and Byrski. 2013. PubMed ID: 23548133
  • Jasperson et al. 2017. PubMed ID: 20301519
  • Kastrinos et al. 2009. PubMed ID: 19861671
  • Kaurah and Huntsman. 2014. PubMed ID: 20301318
  • Laken et al. 1999. PubMed ID: 10051640
  • Larsen Haidle and Howe. 2017. PubMed ID: 20301642
  • Lindor et al. 2008. PubMed ID: 18559331
  • Marquard and Eng. 2015. PubMed ID: 20301434
  • Mauer et al. 2014. PubMed ID: 24113346
  • McGarrity et al. 2016. PubMed ID: 20301443
  • Melham-Bertrandt et al. 2012. PubMed ID: 21761402
  • Nelson and Tsao. 2009. PubMed ID: 19095153
  • O'Daniel and Lee. 2012. PubMed ID: 22846728
  • Peltomaki and Vasen 2004. PubMed ID: 15528792
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Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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