Prenatal Sample Requirements

Baylor Genetics accepts the following sample types for prenatal tests. Submitted sample types must meet the cumulative sample requirements for all ordered prenatal testing. Genetic counselors may be reached via email at [email protected] with complex testing questions. For assistance with billing questions, kit requests, and/or shipping, please call 1-800-411-4363.

Prenatal Tests	Accepted Specimen Type	Volume*		Shipping Conditions
		Initial	Confirmation
Prenatal Chromosome Analysis, Array Analysis, or Array + Limited Karyotype Analysis1	Direct CVS or Amniotic Fluid	Direct CVS: 15+ mg CVS in sterile tissue culture media Direct Amniocytes: 20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	NA	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hrs of sample date. Specimen cannot be frozen.
	Cultured CVS or Amniotic Fluid	1 T-25 flask at about 80% confluency	NA	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hrs of sample date. Specimen cannot be frozen.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
DNA Targeted Sequencing1 Any prenatal targeted site Sanger study. Note: Codes are as listed on the website. Test Code: 1522 For custom prenatal targeted site Sanger studies that do not have a gene specific code on the website.	Direct CVS	15+ mg CVS in sterile tissue culture media	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Cultured CVS or Amniocytes	1 T-25 flask at about 80% confluency	1 T-25 flask from separate primary	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
DMD Deletion/Duplication1,2 Test Code: 6351	Direct CVS	15+ mg CVS in sterile tissue culture media	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Cultured CVS or Amniocytes	1 T-25 flask at about 80% confluency	1 T-25 flask from separate primary	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Myotonic Dystrophy Type 1 Repeat Expansion Analysis1,5 Test Code: 6105	Direct CVS	15+ mg CVS in sterile tissue culture media	2-T25 flasks	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	2 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Cultured CVS or Amniocytes	1 T-25 flask at about 80% confluency	2 T-25 flasks from separate primary	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Huntington Disease Repeat Expansion Analysis1,5 Test Code: 6099	Direct CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flasks	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	2 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Cultured CVS or Amniocytes	1 T-25 flask at about 80% confluency	2 T-25 flasks from separate primary	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
FMR1 (Fragile X) CGG Repeat Expansion Analysis1,5 Test Code: 6574	Cultured Amniocytes	1 T-25 flask at about 80% confluency	2 T-25 flasks from separate primary	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	2 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Extraced DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
MECP2 (Rett Syndrome) Deletion/Duplication1,2 Test Code: 6109	Cultured CVS or Amniocytes	1 T-25 flask at about 80% confluency	2 T-25 flasks from separate primary	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Direct CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flasks	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	2 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
IKBKG (Incontinentia Pigmenti) Common Deletion Analysis1,2 Test Code: 6100	Cultured CVS or Amniocytes	1 T-25 flask at about 80% confluency	2 T-25 flasks from separate primary	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Direct CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flasks	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Prenatal Noonan Spectrum Disorders Panel (NGS with Sanger confirmation)3 Test Code: 24001-P12-05	Cultured CVS or Amniocytes (parental samples required)1	1 T-25 flask at about 80% confluency	1 T-25 flask from separate primary	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Direct CVS	15+ mg CVS in sterile tissue culture media	1 T-25 flasks	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. During hot weather conditions, ship with a cold pack.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
Prenatal Trio Whole Exome Sequencing4 Test Code: 1622	Cultured CVS or Amniocytes (parental samples required)1	1 T-25 flask at about 80% confluency	1 T-25 flask from separate primary	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hours of sample date. Specimen cannot be frozen.
	Direct CVS	15+ mg CVS in sterile tissue culture media	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hrs of sample date. Specimen cannot be frozen.
	Direct Amniocytes	20-30 cc of fluid in two sterile 15 ml conical centrifuge tubes	1 T-25 flask	Ship the sample at room temperature to the laboratory by overnight express. Specimen should arrive in the laboratory within 48 hrs of sample date. Specimen cannot be frozen.
	Extracted DNA from CVS or Extracted DNA from Amniotic Fluid	At least 20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	NA	Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

*Both initial and confirmation volume amounts are required when ordering any prenatal test.

1. Samples from both parents are required as controls for testing. Note, for test code 6574, the paternal sample is preferred but not required.
2. Generally, Baylor Genetics will test even if the mother is not found to be a carrier of the familial mutation due to the high incidence of gonadal mosaicism.
3. Prenatal Noonan requires U/S findings consistent with Noonan syndrome to be ran.
4. Prenatal exome studies require appropriate sonographic findings to allow the filtering of variants. Baylor Genetics requires samples from both parents. However, exceptions can be made if the paternal sample is not available (i.e., unknown, sperm donor, etc.).
5. Please note that Southern blot requires a relatively large amount of extracted DNA. Therefore, cultured amniocytes are needed for DNA extraction to perform this testing. Baylor Genetics will grow cultured amniocytes for this testing if cultures are not expected to be sent from another lab.

Labeling

For prenatal testing, please make sure that the specimen containers have two identifiers that match the prenatal test requisition. Identifiers include, but are not limited to, the following:

• Patient’s First and Last Name
• Date of Birth
• Accession #
• Hospital / Medical Record #

Additional Notes

If direct amniotic fluid is being sent, the gestational age must be greater than 16 weeks; cultures should be sent at about 80% confluency.

All prenatal testing requires the maternal specimen (5cc in a properly labeled EDTA tube) for maternal cell contamination (MCC) studies.

If testing was not previously done at Baylor Genetics, then both parents and/or proband specimens may be needed as controls. If parents have not already had testing at a clinical lab, then parental confirmation testing will be a charge. Generally, family studies need to be completed prior to initiating prenatal testing.

A fetal report will be issued when the initial testing is completed and updated when the confirmation testing has been completed.