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Gene Dx #195 PTEN sequencing, deletion, duplication
MessageCollect at NMCP only Mon-Thursday by 1200
Test Code
195
CPT Codes
81321x1, 81323x1
Includes
"PTEN Hamartoma Tumor Syndrome (PHTS), Cowden Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, Macrocephaly/Autism Syndrome, and Proteus Syndrome/-like syndrome
Mendelian Inheritance in Man Number: 158350 (Cowden syndrome); 153480 (Bannayan-Riley-Ruvalcaba s
Mendelian Inheritance in Man Number: 158350 (Cowden syndrome); 153480 (Bannayan-Riley-Ruvalcaba s
Preferred Specimen
2-5 mL Blood
Other Acceptable Specimens
Saliva: Can be used as an alternative to blood. Use a GeneDx saliva kit (others not accepted). To request a GeneDx saliva kit
Instructions
Ship overnight at ambient temperature
Transport Container
Lavender Top Tube
Transport Temperature
rooom temp
Specimen Stability
refrigerated for 7 days
Methodology
Capillary Sequencing, Exon Array CGH
Report Available
6-8 weeks
Clinical Significance
"The PTEN hamartoma tumor syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), macrocephaly/autism syndrome, Proteus syndrome (PS), and Proteus-like syndrome. This group of disorders shares significant clinical overlap.1
CS is characterized by increased risk for both benign and malignant tumors of the breast, thyroid, and endometrium. Affected individuals have macrocephaly and almost all will develop the pathognomonic mucocutaneous lesions by the third decade of life, including trichilemmomas, papillomatous papules, and acral and plantar keratoses. Affected females also have a high rate of benign breast disease. Hamartomatous polyposis of the GI tract can be observed, but is rarely symptomatic.
BRRS is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and enlargement and spotty pigmentation of the glans penis. Other common features may include: high birth weight, mild to severe mental retardation with delayed motor and speech development, proximal muscle weakness, joint hyperextensibility, macrodactyly, pectus excavatum, and scoliosis. Hamartomatous GI polyps are observed in ~45% of affected individuals. The cancer risks in patients with BRRS who harbor PTEN gene mutations are thought to be similar to that of individuals with CS.
Macrocephaly/autism syndrome is characterized by autism spectrum disorder (ASD) in the presence of significant macrocephaly with a head circumference ranging from +2.5 to +8 SD for age and sex. Most but not all patients also have dysmorphic features, such as broad forehead, hypertelorism, midface hypoplasia, depressed nasal bridge, long philtrum and short nose. However, typical clinical features of CS or BRRS were usually lacking.2,3
PS/PS-like (PSL) is an extremely rare congenital disorder with generalized, unilateral, or localized hamartomatous overgrowth of any tissue. Unusual malignancies have been observed, such as cystadenoma of the ovary, testicular tumors, central nervous system tumors, and parotid monomorphic adenomas.
Inheritance pattern:
Each of these disorders is inherited in an autosomal dominant manner; de novo mutations are common.
Reasons for referral:
1. Confirmation of a clinical diagnosis
2. Identification of at-risk family members
3. Determination of appropriate screening and treatment
4. Prenatal diagnosis in at-risk pregnancies
5. Genetic counseling
"
CS is characterized by increased risk for both benign and malignant tumors of the breast, thyroid, and endometrium. Affected individuals have macrocephaly and almost all will develop the pathognomonic mucocutaneous lesions by the third decade of life, including trichilemmomas, papillomatous papules, and acral and plantar keratoses. Affected females also have a high rate of benign breast disease. Hamartomatous polyposis of the GI tract can be observed, but is rarely symptomatic.
BRRS is a congenital disorder characterized by macrocephaly, intestinal polyposis, lipomas, and enlargement and spotty pigmentation of the glans penis. Other common features may include: high birth weight, mild to severe mental retardation with delayed motor and speech development, proximal muscle weakness, joint hyperextensibility, macrodactyly, pectus excavatum, and scoliosis. Hamartomatous GI polyps are observed in ~45% of affected individuals. The cancer risks in patients with BRRS who harbor PTEN gene mutations are thought to be similar to that of individuals with CS.
Macrocephaly/autism syndrome is characterized by autism spectrum disorder (ASD) in the presence of significant macrocephaly with a head circumference ranging from +2.5 to +8 SD for age and sex. Most but not all patients also have dysmorphic features, such as broad forehead, hypertelorism, midface hypoplasia, depressed nasal bridge, long philtrum and short nose. However, typical clinical features of CS or BRRS were usually lacking.2,3
PS/PS-like (PSL) is an extremely rare congenital disorder with generalized, unilateral, or localized hamartomatous overgrowth of any tissue. Unusual malignancies have been observed, such as cystadenoma of the ovary, testicular tumors, central nervous system tumors, and parotid monomorphic adenomas.
Inheritance pattern:
Each of these disorders is inherited in an autosomal dominant manner; de novo mutations are common.
Reasons for referral:
1. Confirmation of a clinical diagnosis
2. Identification of at-risk family members
3. Determination of appropriate screening and treatment
4. Prenatal diagnosis in at-risk pregnancies
5. Genetic counseling
"
