Chromosomal Abnormalities

Forms and Documents

Test Details

  • For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal maternal serum screening test result, advanced maternal age, family history of chromosome abnormality, abnormal aCGH result requiring chromosome analysis for clarification, recurrent spontaneous abortions. Fetal tissue obtained after a miscarriage (products of conception) can also be submitted for chromosome analysis and/or aCGH.
  • For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions. Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.
  • Karyotype

Ordering

4341
1-2 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

Billing

88235x1, 88267x1, 88280x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

  • For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal maternal serum screening test result, advanced maternal age, family history of chromosome abnormality, abnormal aCGH result requiring chromosome analysis for clarification, recurrent spontaneous abortions. Fetal tissue obtained after a miscarriage (products of conception) can also be submitted for chromosome analysis and/or aCGH.
  • For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions. Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.
  • Karyotype

Ordering

4342
1-2 weeks
20 mg CVS
20 mL Amniotic Fluid|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi

Billing

88235x1, 88267x1, 88261x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

  • For prenatal diagnostic samples: Fetal abnormalities detected by ultrasound, abnormal maternal serum screening test result, advanced maternal age, family history of chromosome abnormality, abnormal aCGH result requiring chromosome analysis for clarification, recurrent spontaneous abortions. Fetal tissue obtained after a miscarriage (products of conception) can also be submitted for chromosome analysis and/or aCGH.
  • For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions. Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.
  • Karyotype

Ordering

4344
1-2 weeks
POC or Other Fetal Tissue

Billing

88233x1, 88262x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

  • Prenatal diagnosis for fetuses with ultrasound findings suggestive of 22q11.2 deletion syndrome.
  • Testing for fetuses at increased risk for 22q11.2 deletion based on family histor
  • FISH

Ordering

455
1-2 weeks
10 mL Amniotic Fluid
20 mg CVS

Billing

88230x1, 88271x2, 88273x1, 88291x1
No
Yes
  • 749 Cleft palate and cleft lip
  • 745.2 Tetralogy of Fallot Fallot's pentalogy Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
  • 745.4 Ventricular septal defect, Eisenmenger's defect or complex, Gerbode defect, Interventricular septal defect, Left ventricular-right atrial communication, Roger's disease
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

  • Abnormal fetal ultrasound findings
  • Ambiguous karyotype results
  • Suspected deletion/duplication syndrome
  • Family history of known or suspected chromosome imbalances
  • Abnormal maternal serum screening
  • Advanced maternal age
  • Targeted Array CGH

Ordering

410
~2 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81229x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Rickman L et al. Eur J Med Genet 48:232?240, 2005
  2. Sagoo GS et al. Genet Med 2009;11:139?46
  3. Hochstenbach R et al. Eur J Med Genet 2009;52:161?9
  4. ACOG Committee Opinion No. 446. Obstet & Gynecol 114:1161?1163, 2009
  5. Vialard F et al. Fetal Diagn Ther 25:277?284, 2009

Forms and Documents

Test Details

  • Multiple pregnancies
  • PCR & Electrophoresis

Ordering

437
1 week
10 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

Forms and Documents

Test Details

  • Abnormal fetal ultrasound findings
  • Ambiguous karyotype results
  • Suspected deletion/duplication syndrome
  • Family history of known or suspected chromosome imbalances
  • Abnormal maternal serum screening
  • Advanced maternal age
  • Whole-genome Array CGH

Ordering

460
~2 weeks
20 mL Amniotic Fluid
20 mg CVS, 2 T25 flasks cultured amnioctyes, 2 T25 flasks of cultured chorionic villi, 3 ug DNA, POC or other fetal tissue

Billing

81229x1, 81265x1, 881235x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Wapner, R.A. (2012) AJOG 206(1) Supplement:S2
  2. ACOG Committee Opinion No. 446. Obstet Gynecol 114:1161-1163, 2009.
  3. Vialard F et al. Fetal Diagn Ther 25:277-284, 2009.
  4. Rickman L et al. Eur  J Med Genet 48:232-­?240, 2005.

Forms and Documents

Test Details

  • For peripheral blood samples: Multiple congenital abnormalities with or without mental retardation/developmental delay; family history of chromosome abnormality; infertility; short stature; recurrent spontaneous abortions. Sometimes a skin or tissue biopsy may be used to provide material for chromosome analysis.
  • Karyotype

Ordering

0559
1-2 weeks
2-5 mL Blood-Sodium Heparin, Green Top Tube. Please note that samples received greater than 7 days after collection will be rejected and not used for analysis.

Billing

88230x1, 88262x1, 88291x1
Yes
Yes
* For price inquiries please email zebras@genedx.com