Cytogenetics, Chromosome Analysis, Karyotype

The study of chromosomes and their abnormalities is known as cytogenetics. Chromosome analysis, or karyotype, refers to the ordered pairing of homologous chromosomes. Chromosome abnormalities constitute a major category of medical genetic disorders. In a clinical setting, chromosome abnormalities account for a large proportion of cases involving individuals referred with congenital malformations, developmental delay, mental retardation, or infertility; women with gonadal dysgenesis; spontaneous abortuses, and couples with repeated spontaneous miscarriages.

Additionally, the field of cytogenetics is important in the diagnosis and workup of patients with hematologic/oncologic disorders. Cytogenetic testing in this area is used for diagnosis, classification of disease, determining treatment regimens, and to monitor disease status and recovery.

The Cytogenetic Laboratory of the Wake Forest School of Medicine is one of the largest university-based laboratories in the Southeast. We provide comprehensive diagnostic analysis for a wide variety of prenatal and postnatal genetic diagnoses. In addition to routine chromosome analysis, we perform high-resolution and specialized banding techniques. Cytogenetic analysis of Hematology-Oncology specimens for leukemia and solid tumors is available. This laboratory is a nationally approved cytogenetic laboratory for CALGB and COG studies.

Genetic counseling is offered for all cases and evaluation by a board-certified Clinical Geneticist is available as indicated. The Cytogenetic Laboratory has two Directors who are board-certified Cytogeneticists and 15 certified Cytogenetic Technologists [CLSp(CG)] with an average of 14 years experience.

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Test: Prenatal Amniotic Fluid Chromosome Analysis  

Purpose of Test: To identify chromosome abnormalities detectable by routine cytogenetic analysis. This includes: translocations, deletions, duplications, inversions, and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Amniotic Fluid

  • Optimum timing for specimen collection is during the 15th-18th weeks of gestation.
  • Specimens collected between 13 weeks to 38 weeks of gestation are also accepted but potentially have culturing limitations.
  • Draw and discard the first 2 mL of amniotic fluid in a sterile syringe. 
  • Draw an additional 20-25 mL of amniotic fluid and send this to the laboratory in an appropriate container.
  • We strongly recommend Allegiance amniocentesis trays distributed by McKesson General Medical [Catalogue #02640711].
  • When using an Allegiance amniocentesis kit, transfer the amniotic fluid into the provided transport containers (2 orange screw-capped, sterile 15-mL centrifuge tubes).
  • Label containers with patient's name. Unavoidably, about >1% of specimens are not viable. Bloody specimens are undesirable and may cause a delay in reporting. If the specimen does not grow in culture, you will be notified within 7 days of receipt.

STORE AND SHIP SPECIMEN AT ROOM TEMPERATURE

Reflex Test: AF screening (see page 60)

Adjunct Tests: FISH for prenatal aneuploidy screening (13, 18, 21, X, Y) No additional specimen is required.

Turn Around Time: 6-10 days

  • We will telephone you with the final chromosome report prior to sending the report.
  • AFP reports are sent out within a day of final report. If the AFP is elevated, an AchE analysis is performed and the referring physician is notified.

CPT Code Information:
88235           AF/CVS tissue culture
88269           AF in situ; 6-12 colonies, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Prenatal Chorionic Villus Sampling Chromosome Analysis 

Purpose of Test: To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. This includes: translocations, duplication, deletions, inversions, and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Chorionic Villus

  • Obtain 20-30 mg of a chorionic villus specimen (CVS) by either the transabdominal or transcervical method.
  • Transfer the CVS to a Petri dish containing transport medium.
  • Using a stereomicroscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots and maternal decidua.
  • Transfer the CVS by using sterile technique to one or two 15-mL centrifuge tube(s) with 15 mL of transport medium.
  • Label the centrifuge tube(s) with patient's name.
  • Send specimen refrigerated. If the specimen does not grow in culture, you will be notified within 7 days of receipt.

SPECIMEN CANNOT BE FROZEN OR PUT ON ICE.

Adjunct Tests: FISH for prenatal aneuploidy screening (13, 18, 21, X, Y) No additional specimen is required.

Turn Around Time: 6-10 days

  • We will telephone you with the final chromosome report prior to sending the report.

CPT Code Information:
88235           AF/CVS tissue culture
88267           CVS; 15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Prenatal Fetal Blood/PUBS Chromosome Analysis  

Purpose of Test: To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. To confirm or clarify chromosome abnormalities identified based on amniocentesis or CVS analysis.  This includes: translocations, duplications, deletions, inversions, mosaicism, marker chromosomes and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Blood

  • Draw 1-2 mL of cord blood in a green-top (sodium heparin) collection tube.
  • Invert collection tube several times to mix blood.
  • Label vial with patient's name.
  • Clotted blood is not acceptable. 
  • Other anticoagulants are not recommended and are harmful to the viability of the cells.

SEND SPECIMEN PROMPTLY AT ROOM TEMPERATURE.

Adjunct Tests: FISH –No additional specimen required.

Turn Around Time: 48 hours

CPT Code Information:
88230           PB tissue culture
88261           Chromosome analysis; count 5 cells, screening, with banding
88262           15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Congenital Disorders Peripheral Blood Chromosome Analysis    

Purpose of Test: To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. This includes: translocations, duplications, deletions, inversions, and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Blood

  • Swab area with alcohol and let dry. Do not swab with Betadine.
  • Draw 5-10 mL (pediatric: 2-5 mL) peripheral blood in a green-top (sodium heparin) collection tube. 
  • Invert collection tube several times to mix blood.
  • Label vial with patient's name. 
  • Clotted blood is not acceptable.  Other anticoagulants are not recommended and are harmful to the viability of the cells.

SEND SPECIMEN PROMPTLY AT ROOM TEMPERATURE.

Adjunct Tests: FISH – No additional specimen required.

Turn Around Time: 6-10 days - stats 48 hours

CPT Code Information:
ROUTINE
88230           PB tissue culture
88262           15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

STAT PB
88230           PB tissue culture
88261           Chromosome analysis; count 5 cells, screening, with banding
88262           15-20 cells, 2 karyotypes, GTG

Family Study(when a chromosome anomaly is known)
88230           PB tissue culture
88261           5 cells, 1 karyotypes, GTG

High Resolution
88230           PB tissue culture
88262           15-20 cells, 2 karyotypes, GTG
88289           High Resolution
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Congenital Disorders Tissue/Skin Biopsy Chromosome Analysis 

Purpose of Test: To identify chromosome abnormalities that can be detected by routine cytogenetic analysis. This includes: translocations, duplications, deletions, inversions, mosaicisms, marker chromosomes, and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Biopsy or Autopsy Tissue Specimen

  • Wash biopsy site with an antiseptic soap (i.e. pHisoHex) and rinse area thoroughly with sterile water.
  • Alternatively, you may use alcohol and let the area dry thoroughly before obtaining a sample. Do not use iodine preparations.
  • A local anesthetic may be used.
  • Biopsy specimens are best taken by punch biopsy to include full thickness of dermis. Biopsy should be 4 mm in diameter.
  • Aseptically place biopsy in a screw-capped, sterile container with sterile media or alternatively Hank's balanced salt solution, Ringer's solution, or physiologically normal saline. Label container with patient's name.

SEND SPECIMEN REFRIGERATED, DO NOT FREEZE

Adjunct Tests: FISH – No additional specimen required.

Turn Around Time: 6-14 days

CPT Code Information:
88233           Tissue culture, skin, or solid tissue biopsy
88262           15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Congenital Disorders Products of Conception, Stillbirth, or Tissue Chromosome Analysis 

Purpose of Test: To identify chromosome abnormalities detectable by routine cytogenetic analysis. This includes: translocations, deletions, duplications, inversions, and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Products of Conception or Stillbirth Autopsy Tissue

  • Where a fetus is identified, sterilely obtain a 1-3 cm biopsy specimen of muscle/fascia from the thigh.
  • Include any chorionic villi and/or 3 cm of the cord.
  • Collection of different tissue specimens increases the likelihood of obtaining viable cells.
  • Aseptically place each specimen in a separate screw-capped, sterile container with sterile media or alternatively Hank's balanced salt solution, Ringer's solution, or physiologically normal saline.
  • Label each container with the specimen type (i.e. placenta) and patient's name.

SEND SPECIMEN(S) REFRIGERATED, DO NOT FREEZE.

Blood

  • Cord blood should be obtained in a green-top (sodium heparin) collection tube.
  • Invert tube several times to mix blood.

CLOTTED BLOOD IS NOT ACCEPTABLE.
SPECIMEN CANNOT BE FROZEN.

Adjunct Test: In cases of culture failure, FISH for aneuploidy (13, 16, 18, 21, X, Y) can be performed to rule out the major aneuploidies. No additional specimen required.

Turn Around Time: 6-14 days

CPT Code Information:
88233            Skin biopsy tissue culture
88262           Count 15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Congenital Disorders Specialized Genetic/Biochemical Testing Skin Biopsy Fibroblast Culture 

Purpose of Test: Growing of fibroblast cultures for specialized molecular genetic or biochemical testing or freezing/storage of cells for future testing.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised. Information regarding special culture conditions and the number of culture flasks necessary for testing must be sent with the specimen. If the specimen is to be sent to an outside referral laboratory, a letter to the laboratory and/or physician regarding the test must be sent to the laboratory prior to sending the specimen.

Skin Biopsy

  • Wash biopsy site with an antiseptic soap (i.e. pHisoHex) and thoroughly rinse area with sterile water.
  • Alternatively, swab area with alcohol and allow the area dry before performing biopsy. Do not use iodine preparations.
  • A local anesthetic may be used. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis. Biopsy should be 4 mm in diameter.
  • Aseptically place biopsy in a screw-capped, sterile container with sterile media or alternatively Hank's balanced salt solution, Ringer's solution, or physiologically normal saline.
  • Label container with patient's name.

SEND SPECIMEN REFRIGERATED, DO NOT FREEZE.

Turn Around Time: 10-16 days for culturing only

CPT Code Information:
88233           Tissue culture, skin, or solid tissue biopsy

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Hematologic Disorders Bone Marrow/Bone Core Chromosome Analysis 

Purpose of Test: To identify any acquired chromosome anomalies associated with leukemia: i.e. CML, Philadelphia chromosome.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Bone Marrow

  • Aspirate 1-5 mLs of a first draw into a syringe coated with 200 units preservative free sodium heparin (provided by our lab).
  • If more than 2 hr delay in delivery to our lab, add 5 mLs medium (provided by our lab).
  • Label vial with patient's name. 
  • Clotted bone marrow is not acceptable for analysis. 
  • Other anticoagulants are not recommended and are harmful to the viability of the cells.

SEND SPECIMEN PROMPTLY AT ROOM TEMPERATURE.

Bone Core

  • Place sample in a sterile collection tube containing 5 mLs medium (provided by our lab).
  • Label tube with patient's name.
  • Note: there is about a 25% chance that a bone core sample will not yield results.

SEND SPECIMEN PROMPTLY AT ROOM TEMPERATURE.

Adjunct Tests: FISH – No additional specimen required.

Turn Around Time: 6-10 days – stats 24 hr

CPT Code Information:
88237           BM tissue culture
88262           15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Hematologic Disorders Peripheral Blood, unstimulated Chomosome Analysis  

Purpose of Test: To identify any acquired chromosome anomalies associate with leukemia: i.e. CML, Philadelphia chromosome.

Required Information: Please provide indications for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Blood

  • Swab area with alcohol and let dry. Do not swab with Betadine.
  • Draw 7-10 mL (pediatric: 2-5 mL) peripheral blood into a green-top (sodium heparin) collection tube.
  • Invert collection tube several times to mix blood.
  • Label vial with patient's name. 
  • Clotted blood is not acceptable for analysis.  Other anticoagulants are not recommended and are harmful to the viability of the cells.
  • Note:  A low percentage of blast cells in the peripheral blood will often led to culture failure.

SEND SPECIMEN PROMPTLY AT ROOM TEMPERATURE.

Adjunct Tests: FISH specific per physician’s request No additional specimen required.

Turn Around Time:  6-10 days – stats 24 hours

CPT Code Information:
88237            BM and neoplastic blood cell culture
88262            15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Oncology Solid Tumors/Fine Needle Aspirates (FNA) Chromosome Analysis  

Purpose of Test: To identify acquired chromosome abnormalities detectable by routine cytogenetic analysis. This includes: translocations, deletions, duplications, inversions, and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Solid Tumor/FNA

  • Aseptically place a 0.5 cm or larger tumor biopsy or the FNA in a sterile transport container with 10 mL of sterile medium. Alternatively Hank's balanced salt solution, Ringer's solution, RPMI medium or physiologically normal saline can be used.
  • Label container with patient's name and specimen type.

SEND SPECIMEN REFRIGERATED, DO NOT FREEZE.

Adjunct Test: FISH specific per physician’s request No additional specimen required.

Turn Around Time:  12-18 days

CPT Code Information:
88239            Other tissue culture (solid tumor)
88262            Count 15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

Test: Oncology Pleural Fluid/CNS Fluid/Lymph Node Chromosome Analysis 

Purpose of Test: To identify acquired chromosome abnormalities detectable by routine cytogenetic analysis. This includes: translocations, deletions, duplications, inversions, and numerical aberrations.

Required Information: Please provide indications (ICD-9) for testing on our referral form with each specimen. Accurate testing and interpretation may otherwise be compromised.

Pleural Fluid

  • Aseptically obtain 25 to 50 mL of pleural fluid. Place in a sterile screw-capped container.
  • Label vial with patient's name.

SEND SPECIMEN REFRIGERATED, DO NOT FREEZE.

Central Nervous Spinal (CNS) Fluid

  • Aseptically obtain 5 to 10 mL of CNS fluid. Place in a sterile screw-capped container.
  • Label container with patient's name.

SEND SPECIMEN REFRIGERATED, DO NOT FREEZE.

Lymph Node

  • Aseptically obtain 1-3 cm of lymphomatous tissue. Place specimen in a screw-capped, sterile container with sterile medium or alternatively Hank's balanced salt solution, Ringer's solution, or physiologically normal saline.
  • Label container with patient's name.

SEND SPECIMEN REFRIGERATED, DO NOT FREEZE.

Adjunct Test: FISH specific per physician’s request No additional specimen required.

Turn Around Time:   6-10 days – stat 24 hr

CPT Code Information:
88239           Other tissue culture (solid tumor)
88262           Count 15-20 cells, 2 karyotypes, GTG
88280           Additional karyotypes, each study
88285           Additional cells counted, each study

[Lab Referral Form] [Printable PDF File] [Back to Top]

 

Quick Reference

Medical Genetics Contact Information
Clinical Genetics Services

Phone 336-713-7573
Fax 336-713-7577

Genetic Laboratory Services

Phone 336-716-4321
Fax 336-716-2554

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Phone 336-713-7530
Fax 336-713-7577

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