PMC Multi Organs Cancer Panel

Associated Conditions
- APC-associated polyposis conditions
- Ataxia telangiectasia (A-T)
- BAP1 tumor predisposition syndrome
- Basal cell nevus syndrome, also known as Gorlin syndrome
- Birt-Hogg-Dubé (BHD) syndrome
- Bloom syndrome
- Carney complex
- CDC73-related conditions (hyperparathyroidism-jaw tumor syndrome (HPT-JT), parathyroid carcinoma, and familial isolated hyperparathyroidism (FIHP)
- CDK4-related cutaneous melanoma
- Coffin-Siris syndrome
- Constitutional mismatch repair deficiency (CMMR-D)
- DICER1-related pleuropulmonary blastoma familial tumor predisposition syndrome
- EGFR-related conditions
- Familial GIST, familial mastocytosis
- Familial isolated pituitary adenoma
- Familial meningioma
- Familial neuroblastoma
- Fanconi anemia
- FH tumor predisposition syndrome
- GIST-plus syndrome
- Hereditary breast and gynecologic cancers
- Hereditary breast and ovarian cancer syndrome (HBOC)
- Hereditary diffuse gastric cancer syndrome
- Hereditary mixed polyposis syndrome
- Hereditary paraganglioma-pheochromocytoma syndrome
- Hereditary retinoblastoma
- HOXB13-related predisposition to prostate cancer
- Juvenile polyposis syndrome (JPS)
- Li-Fraumeni syndrome
- Lynch syndrome
- MBD4-associated neoplasia syndrome (MANS)
- Melanoma-pancreatic cancer syndrome and melanoma-neural system tumor syndrome
- MET-related conditions
- MITF-related conditions
- MSH3-associated polyposis
- Multiple endocrine neoplasia type 1 (MEN1)
- Multiple endocrine neoplasia type 2 (MEN2)
- Multiple endocrine neoplasia type 4 (MEN4)
- MUTYH-associated polyposis (MAP)
- NF1-related conditions
- Noonan spectrum disorders
- NTHL1-associated polyposis
- Oligodontia-colorectal cancer syndrome
- Peutz-Jeghers syndrome
- Polymerase proofreading–associated polyposis (PPAP)
- POT1 tumor predisposition syndrome
- PTEN hamartoma tumor syndrome
- Rhabdoid tumor predisposition syndrome
- Schwannomatosis
- Small cell carcinoma of the ovary, hypercalcemic type
- Tuberous sclerosis complex
- von Hippel-Lindau syndrome

Methodology

Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)

Coverage

120x

Ordering Information

Turnaround Time: 10–21 business days
Preferred Specimens: Saliva Kits (available upon request)
Alternate Specimens: Nail clippings or 3-mL whole blood in purple top EDTA tube

Limitations

All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.

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Test Description

Associated Conditions

Methodology

Coverage

Ordering Information

Limitations

Tagged Genes