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 any testing questions. For assistance with billing questions, kit requests, and/or shipping, please call 1-800-411-4363.

Prenatal Cytogenetic Testing

Prenatal Tests	Specimen Type	Quanity Required			Additional Required Samples
		Direct	Cultured	Extracted DNA
Prenatal  Chromosome Analysis, Array Analysis, or Array + Limited Chromosome Analysis	CVS Test Codes: 8700, 8657,8671, 8672, 8676	15+ mg CVS in sterile tissue culture media	1 T-25 flask at about 80% confluency	20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	Maternal required and paternal preferred for array analysis
	Amniotic Fluid Test Codes: 8530, 8656, 8670, 8673, 8675	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	1 T-25 flask at about 80% confluency
FISH Analysis – Prenatal Aneuploidy Test Code: 8410	CVS	15+ mg CVS in sterile tissue culture media	N/A	N/A	N/A
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	N/A	N/A

Prenatal Whole Exome Sequencing

Prenatal Tests	Specimen Type	Quanity Required			Additional Required Samples
		Direct	Cultured	Extracted DNA
Prenatal Trio Whole Exome Sequencing Test Code: 1622	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries	20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	Maternal and paternal required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries

Prenatal Molecular

Prenatal Tests	Specimen Type	Quanity Required			Additional Required Samples
		Direct	Cultured	Extracted DNA
Custom Sequence Analysis Test Code: 1522	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries	20ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7)	Maternal and positive control required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries
DMD Deletion/Duplication Test Code: 6351	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries		Maternal and positive control required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries
Myotonic Dystrophy Type 1 Repeat Expansion Analysis Test Code: 6105	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries		Maternal and positive control required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries
Huntington Disease Repeat Expansion Analysis Test Code: 6099	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries		Maternal and positive control required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries
FMR1 (Fragile X) CGG Repeat Expansion Analysis Test Code: 6574	Amniotic Fluid
		20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries		Maternal required and paternal preferred
MECP2 (Rett Syndrome) Deletion/Duplication Test Code: 6109	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries		Maternal and positive control required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries
IKBKG (Incontinentia Pigmenti) Common Deletion Analysis Test Code: 6100	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries		Maternal and positive control required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries
Prenatal Noonan Spectrum Disorders/RASopathy Panel Test Code: 24001-P12-05	CVS	15+ mg CVS in sterile tissue culture media	2 T-25 flask at about 80% confluency from separate primaries		Maternal required
	Amniotic Fluid	20-30 cc of fluid in two sterile 15 mL conical centrifuge tubes. Discard the first 2 cc of fluid collected.	2 T-25 flask at about 80% confluency from separate primaries

Other Prenatal

Prenatal Tests	Specimen Type	Quanity Required			Additional Required Samples
		Direct	Cultured	Extracted DNA
Alpha-fetoprotein and Acetylcholinesterase Analysis Test Code: 8550	Amniotic Fluid	Collect at least 3 mL amniotic fluid in a sterile leak-proof container.
			NA	NA	NA
Alphafetoprotein Analysis Test Code: 8501	Amniotic Fluid	Collect at least 3 mL amniotic fluid in a sterile leak-proof container.
			NA
Herpes Simplex Virus 1 & 2 Analysis Test Code: 8940	Amniotic Fluid	Collect 1 mL amniotic fluid in a sterile leak-proof container.
			NA
Cytomegalovirus (CMV) Analysis Test Code: 8945	Amniotic Fluid	Collect 1 mL amniotic fluid in a sterile leak-proof container.
			NA
Toxoplasma gondii (TOXO) Analysis Test Code: 8950	Amniotic Fluid	Collect 1 mL amniotic fluid in a sterile leak-proof container.
			NA
Parvovirus B19 Analysis Test Code: 8955	Amniotic Fluid	Collect 1 mL amniotic fluid in a sterile leak-proof container.
			NA

Products of Conception

Prenatal Tests	Specimen Type	Quanity Required			Additional Required Samples
		Direct	Cultured	Extracted DNA
Chromosome Analysis Test Code: 8800	Placental tissue
	Cord tissue
	Product of Conception/Autopsy >12 weeks gestation – Unclotted Cord or Cardiac Blood	Draw blood in both Sodium Heparin (green-top) tube(s) and an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 1-2 cc (Infant< 2 years).
			NA
	Product of Conception/Autopsy >12 weeks gestation – Placenta	Collect 10 cubic millimeters Placenta from fetal side near the site of cord insertion. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
			NA
	Product of Conception/Autopsy <12 weeks gestation – Placenta	Collect 10 cubic millimeters Placenta from fetal side near the site of cord insertion. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
			NA
	Product of Conception/Autopsy <12 weeks gestation – Identifiable Fetal Parts	Collect 5 cubic millimeters of sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
			NA
	Non-Fixed Tissue or Products of Conception	POC (products of conception): Dissected chorionic villi or known fetal tissue (preferred). Please send at least 50-100 mg villi or 0.5 – 1 cm3 tissue(s) in a sterile container with sterile: 1. Transport media provided by our laboratory, 2. Ringer’s lactate, or 3. Hanks’ balanced salt solution.
			NA
	Cultured Skin Fibroblast	NA
			Send 2 T25 flasks at 80-100% confluence.
	Other
		Please contact the laboratory to discuss other specimen types that may be acceptable.
Chromosomal Microarray Analysis Test Code: 8639	Placental tissue
	Cord tissue
	Product of Conception/Autopsy >12 weeks gestation – Unclotted Cord or Cardiac Blood	Draw blood in both Sodium Heparin (green-top) tube(s) and an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) or 1-2 cc (Infant< 2 years).
			NA
	Product of Conception/Autopsy >12 weeks gestation – Placenta	Collect 10 cubic millimeters Placenta from fetal side near the site of cord insertion. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
			NA
	Product of Conception/Autopsy <12 weeks gestation – Placenta	Collect 10 cubic millimeters Placenta from fetal side near the site of cord insertion. Place sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
			NA
	Product of Conception/Autopsy <12 weeks gestation – Identifiable Fetal Parts	Collect 5 cubic millimeters of sample in a separate sterile container with RPMI media. In the absence of RPMI media, place sample in a sterile container with a small amount of sterile saline. Never place samples in formalin or other fixative.
			NA
	Non-Fixed Tissue or Products of Conception	POC (products of conception): Dissected chorionic villi or known fetal tissue (preferred). Please send at least 50-100 mg villi or 0.5 – 1 cm3 tissue(s) in a sterile container with sterile: 1. Transport media provided by our laboratory, 2. Ringer’s lactate, or 3. Hanks’ balanced salt solution.
			NA
	Cultured Skin Fibroblast	NA
			Send 2 T25 flasks at 80-100% confluence.
	Other
		Please contact the laboratory to discuss other specimen types that may be acceptable.

*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.