Prenatal Detection of Known Mutation (PT2)                              


Mendelian Inheritance in Man number: *601728 (PTEN gene); 158350 (Cowden syndrome, CS); 153480 (Bannayan-Riley-Ruvalcaba syndrome, BRRS); 176920 (Proteus syndrome, PS); 605309 (Macrocephaly/Autism syndrome)

Click here for Gene Reviews Clinical Summary.

Please see PTEN1 description for detailed clinical information


  • Prenatal predictive testing for individuals at risk of inheriting an already known PTEN mutation


We offer a targeted detection of a previously characterized PTEN mutation within the

Family.  For prenatal diagnosis, fresh or cultured CVS or amniocytes can be used for diagnostic purposes. DNA is extracted directly, the target region is amplified and the sequence is analyzed for the presence or absence of the specific mutation. Maternal cell contamination is analyzed by amplification of microsatellite markers in the DNA of the maternal and fetal sample.  All prenatal samples are performed in duplicate and independently by two technicians.


(1) minimum of 15 mg of chorionic villus specimen. Send specimen in transport media in 15-mL centrifuge tube.

(2) 20 mL of amniotic fluid. Send specimen refrigerated, but not frozen.

(3) 2-T25 flasks of cultured CVS (>70% confluent), sent at ambient temperature.

(4) 2-T25 flasks of cultured amniocytes. (>70% confluent), sent at ambient temperature. Please also send 1-5 ml of blood or buccal swab sample from the mother for maternal contamination studies.


If specimen is from clinics within UAB or Kirklin Clinic, please call 934-5562 for pick-up. If specimens are being sent from some other location, please ship via UPS or Federal Express.

1. Be sure that the shipping air bill is marked “Priority”, either Domestic or International.
2. Specimens must be packaged to prevent breakage and absorbent material must be included in the package to absorb liquids in the event that breakage occurs.  Also, the package must be shipped in double watertight containers (e.g. a specimen pouch + the shipping companies Diagnostic Envelope). You can use our collection kits, which we will send to physicians directly upon request.
3. Please contact us (Email –, Phone – 205-934-5562) prior to sending a sample for prenatal testing and provide us with the date of shipment and the tracking number of the package, so that we can better ensure receipt of the samples within the 60-hour window


6 business days after sample is received


Please find the most up to date prices and CPT codes for our testing services under the "Prices" tab of this website.


PTEN Test Requisition

*Phenotypic checklist does not need to be filled out for prenatal tests.

Form for customs (International shipment)

Note: Detailed and accurate completion of this document is necessary for reporting purposes. The Medical Genomics Laboratory issues its clinical reports based on the demographic data provided by the referring institution on the lab requisition form. It is the responsibility of the referring institution to provide accurate information. If an amended report is necessary due to inaccurate or illegible documentation, additional reports will be drafted with charge.

Requests for Molecular Genetic testing for PTEN will not be accepted for the following reasons:

  • No label (patients full name and date of collection) on the specimens
  • No referring physician’s or genetic counselor’s names and addresses
  • No billing information if being paid for by an institution
  • No payment if being paid for by an institution
  • No informed consent


For more information, test requisition forms, or sample collection and mailing kits, please call: 205-934-5562.



Barker K, Martinez A, Wang R, Bevan S, Murday V, Shipley J, Houlston R, Harper J (2001)  PTEN mutations are uncommon in Proteus syndrome  J Med Genet. 38: 480-1 (PubMed)

Buxbaum JD, Cai G, Chaste P, Nygren G, Goldsmith J, Reiehert J, et al. (2007) Mutation Screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet. 144B:484-91. (PubMed)

Butler MG, Dasouki MJ, Zhou XP, Talebizadeh X, Brown M, Takahashi TN, et al. (2005) Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumor suppressor gene mutations. J Med Genet. 42:318-21. (PubMed)

Cohen MM Jr. (2005) Proteus syndrome: An update. Am J Med Genet. 137C:38-52. (PubMed)

Eng C. (2003) PTEN: one gene, many syndromes. Hum Mutat. 22(3):183-98. (PubMed)

Eng C, Thiele H, Zhou XP, Gorlin RJ, Hennekam RC, Winter RM  (2001)  PTEN mutations and proteus syndrome.  Lancet. 358: 210-1 (PubMed)

Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP. (2001) PTEN Mutation in a Family With Cowden Syndrome and Autism.  Am J Med Genet 105(6):521-24. (PubMed)

Herman GE, Butter E, Enrile B, Matthew P, Prior TW, Sommer A. (2007) Increasing knowledge of PTEN germline mutations: two additional patients with autism and macrocephaly. Am J Med Genet. 143A:589-93. (PubMed)

Pezzolesi MG, Zbuk KM, Waite KA, Eng C (2007)  Comparative genomic and functional analyses reveal a novel cis-acting PTEN regulatory element as a highly conserved functional E-box motif deleted in Cowden syndrome  Hum Mol Genet. 16: 1058-71 (PubMed)

Smith JM, Kirk EP, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ (2002) Germline mutation of the tumour suppressor PTEN in Proteus syndrome  J Med Genet. 39: 937-40 (PubMed)

Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C (2003) Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.  Am J Hum Genet. 73: 404-11 (PubMed)

Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C (2000)  Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis  Hum Mol Genet. 9: 765-8 (PubMed)