List of diseases covered by Polyposis Syndromes NGS panel

Published 12/07/2018

List of diseases covered by
Polyposis Syndromes NGS panel

Gene	Condition
APC	Adenomatous polyposis coli; Colorectal cancer, somatic; Desmoid disease, hereditary; Gardner syndrome; Gastric cancer, somatic; Hepatoblastoma, somatic
BMPR1A	Juvenile polyposis syndrome, infantile form; Polyposis syndrome, hereditary mixed, 2
MUTYH	Adenomas, multiple colorectal; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; Gastric cancer, somatic
PTEN	Glioma susceptibility 2, Meningioma, Macrocephaly/autism syndrome; Endometrial carcinoma, somatic; Malignant melanoma, somatic; Squamous cell carcinoma, head and neck, somatic; Prostate cancer, somatic; VATER association with macrocephaly and ventriculomegaly; Bannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1
SMAD4	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal
STK11	Pancreatic cancer; Peutz-Jeghers syndrome; Testicular tumor, somatic

Polyposis Syndromes

Published 05/04/2013

Polyposis Syndromes
NGS panel

Genes
(full coding
region):

APC, BMPR1A, GREM1, MSH3, MUTYH, PTEN, RNF43, SMAD4, STK11

List of diseases covered by the panel

Lab method:

NGS panel with CNV analysis

TAT:

6-9 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information:

Go to online ordering or download sample submission form

Del/dup analysis

Genes:

BMPR1A, PTEN, SMAD4, STK11

Lab method:

MLPA

TAT:

4-6 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

2 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.

Ordering information:

Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Testing of individuals with family history of polyposis syndromes
3. Differentiation of FAP from MUTYH-associated polyposis
4. Differentiation of juvenile polyposis from other hamartomatous polyposis syndromes
5. Genetic counseling

Numerous polyposis syndromes may present with gastrointestinal (GI) polyps. Hereditary types include familial adenomatous polyposis and hamartomatous polyposis, and other rare polyposis syndromes. Molecular genetic testing enables differential diagnosis of GI polyposis syndromes often defined with overlapping and indistinguishable phenotypes.

Familial adenomatous polyposis (FAP), MUTYH-associated polyposis, BMPR1A-related juvenile polyposis, SMAD4-related juvenile polyposis, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome are included in the testing.

References:

Bronner MP. Gastrointestinal Inherited Polyposis Syndromes. Mod Pathol 2003;16(4):359–365
Jasperson KW, Burt RW. APC-Associated Polyposis Conditions. GeneReviews® 1998 December 18 (Updated 2014 March 27).

Familial Adenomatous Polyposis

Published 22/04/2010

Familial Adenomatous Polyposis
Sequencing of the APC gene

Genes
(full coding
region):

APC

Lab method:

NGS

TAT:

2-4 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

Ordering information:

Go to online ordering or download sample submission form

Del/dup analysis of the APC gene

Genes:

APC

Lab method:

MLPA

TAT:

4-6 weeks

Specimen requirements:

2-4 ml of blood with anticoagulant EDTA

Ordering information:

Go to online ordering or download sample submission form

Indications for mutation analysis:

1. Testing of individuals with adenomatous polyps
2. Testing of first degree relatives of the affected individuals
3. Genetic counseling

Familial adenomatous polyposis (FAP) is a colon cancer predisposition syndrome characterized by the early onset of hundreds to thousands of adenomatous polyps throughout the colon. By age 35, 95% of individuals with FAP have polyps. If left untreated, patients with this syndrome develop colon cancer by age 35-40. APC-associated polyposis conditions are inherited in an autosomal dominant manner.