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Familial adenomatous polyposis
All
Medical Tests
ICD10
Additional ICD10
SNOMED
All
Medical Tests
ICD10
Additional ICD10
SNOMED
Familial adenomatous polyposis
Disease
Medical Tests (22)
Screening/Initial Testing (
1)
Occult Blood, Fecal, Immunochemical Testing (iFOB)
10
Note:
Diagnostic Testing (
7)
Biopsy, Colon
10
Note:
Familial Adenomatous Polyposis (APC) Gene Mutation Analysis
10
Note:
Assess risk or confirm diagnosis of familial adenomatous polyposis (FAP) or attenuated FAP.
Complete Blood Cell Count (CBC) with Differential
7
Note:
Comprehensive Metabolic Panel
6
Note:
PTEN (Phosphatase and Tensin Homolog) Gene Mutation Analysis
6
Note:
In patients with hamartomatous polyp(s) and findings suspicious for PTEN hamartoma tumor syndrome: aka Cowden syndrome and Bannayan-Riley-Ruvalcaba syndromes
Peutz-Jeghers Syndrome (STK11) Gene Mutation Analysis
6
Note:
In patients with hamartomatous polyp(s) and findings suspicious for Peutz-Jeghers syndroms.
SMAD4 Germline Mutation Analysis
6
Note:
In patients with hamartomatous polyp(s) and findings suspicious for Juvenile polyposis coli (JPC).
Disease Management Testing (
3)
Occult Blood, Fecal, Immunochemical Testing (iFOB)
7
Note:
Basic Metabolic Panel (BMP)
6
Note:
Complete Blood Cell Count (CBC)
6
Note:
Other Supportive/Alternative Tests (
11)
MLH1 Gene Mutation Analysis (Known Mutations, Duplication/Deletion/Sequencing)
6
Note:
Rule out Lynch syndrome.
MLH1 Hypermethylation (Promoter Methylation) Analysis, Tissue
6
Note:
Rule out lynch syndrome.
Occult Blood, Fecal
6
Note:
Rule out gastrointestinal cancer and bleeding.
Familial Adenomatous Polyposis (APC) Gene Mutation Analysis, Sequencing
5
Note:
As an alternative and supportive to APC target mutation assay.
Hereditary Colon Cancer Gene Mutation Panel (Lynch syndrome), NGS
5
Note:
Alternative to specific markers. Good for diagnosis and therapy selection.
MSH2 Gene Mutation Analysis (Known Mutations, Duplication/Deletion/Sequencing)
5
Note:
MSH6 Gene Mutation Analysis (Known Mutations, Duplication/Deletion/Sequencing)
5
Note:
MUTYH Gene Mutation Analysis (Y165C and G382D) for MUTYH associated polyposis (MAP)
5
Note:
Differentiate MUYTH-associated polyposis.
Microsatellite Instability (MSI), HNPCC/Lynch Syndrome
5
Note:
Postmeiotic Segregation Increased 2 (PMS2) Gene Mutation Analysis
5
Note:
Stool Nucleic Acid Based Colorectal Cancer Screening Test, Cologaurd®, Cologuard Plus, ColoSense
5
Note:
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