Ordering Recommendation

Consultation with a genetic counselor is advised. Order for fetal testing to detect a previously characterized variant in a family member.


Polymerase Chain Reaction/Sequencing


Sun- Sat


5-10 days

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation

Contact ARUP's genetic counselor at (800) 242-2787 extension 2141 prior to test submission.
Fetal Specimen
: Two T-25 flasks at 80 percent confluent of cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787. Or amniotic fluid.
AND Maternal Specimen:
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80% confluent of cultured amniocytes. Backup cultures must be retained at the client's institution until testing is complete.
OR Amniotic Fluid:
Transport 10 mL unspun fluid. (Min: 5 mL)
AND Maternal Specimen:
Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Amniotic Fluid:
Room temperature.
Maternal Specimen:

Unacceptable Conditions

Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination, Maternal Specimen. This can be arranged by contacting ARUP genetic counselors at (800) 242-2787 ext. 2141.


Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Specimen
: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.


Documentation of the familial gene mutation(s) is required to perform targeted sequencing. Submit a copy of a relative's laboratory test report documenting the gene and specific mutation(s) for which testing is requested.

This test is available for genes currently sequenced at ARUP: APC, BRCA1, BRCA2, CFTR, G6PD, GJB2, HBA1/HBA2, MLH1, MSH2, MSH6, MECP2, PMS2, PTEN, HBB, MEFV, ACADM, PRSS1, and known familial variants. . Some genes will require approval before fetal testing can begin. Contact ARUP's Genetic Counselors at (800) 242-2787 extension 2141 prior to test submission.

Submit a positive control with the patient specimen for appropriate interpretation. Disease-specific patient history forms are available at www.aruplab.com/Testing-Information/consentforms-patienthistory.jsp

Hotline History
CPT Codes

81265 Fetal Cell Contamination; 81202 APC; 81215 BRCA1; 81217 BRCA2; 81221 CFTR; 81248 G6PD; 81253 GJB2; 81258 HBA1/HBA2; 81293 MLH1; 81296 MSH2; 81299 MSH6; 81303 MECP2; 81318 PMS2; 81322 PTEN; 81362 HBB; 81402 MEFV 
81401 if one of the following genes is tested: ACADM, PRSS1
81403 for known familial variant not otherwise specified, for each variant exon.

Component Test Code* Component Chart Name LOINC
0050548 Maternal Contamination Study Fetal Spec 59266-7
0050612 Maternal Contam Study, Maternal Spec 31208-2
2001963 Targeted Sequencing Gene 48018-6
2001965 Targeted Sequencing Interpretation 50398-7
2001981 SEQ FSM FE Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
  • (Familial Mutation, Targeted Sequencing)
  • Adrenoleukodystrophy, X-Linked (ABCD1)
  • Alpha Globin (HBA1 and HBA2)
  • Alport Syndrome, X-linked (COL4A5)
  • Angelman Syndrome (UBE3A), (Familial Mutation, Targeted Sequencing) Angelman Syndrome (UBE3A)
  • ATP7A - Related Copper Transport Disorders (ATP7A)
  • Beta Globin (HBB)
  • Biotinidase Deficiency (BTD)
  • Breast and Ovarian Cancer Syndrome (BRCA1 and BRCA2)
  • Capillary Malformation-Arteriovenous Malformation Syndrome (RASA1) Sequencing
  • Carnitine Deficiency, Primary (SLC22A5)
  • CDKL5-Related Disorders (CDKL5) Sequencing
  • CHARGE Syndrome (CHD7)
  • Connexin 26 (GJB2)
  • Cowden Syndrome (PTEN) Sequencing
  • Cystic Fibrosis (CFTR)
  • Familial Mediterranean Fever (MEFV)
  • Familial Transthyretin Amyloidosis (TTR) Sequencing
  • Freeman-Sheldon Syndrome (MYH3) Exon 17
  • Galactosemia (GALT)
  • Glaucoma, Primary Congenital (CYP1B1)
  • GLI3-Related Disorders (GLI3)
  • Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHA)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHB)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHC)
  • Hereditary Paraganglioma-Pheochromocytoma (SDHD)
  • HNPCC/Lynch Syndrome (PMS2)
  • Inherited Insulin Resistance Syndrome (INSR)
  • Juvenile Polyposis (SMAD4)
  • Juvenile Polyposis Syndrome (BMPR1A)
  • Laminopathies (LMNA)
  • Legius Syndrome (SPRED1) and (NF1)
  • Loeys-Dietz Syndrome (TGFBR1 & TGFBR2)
  • Lynch Syndrome/HNPCC (MLH1)
  • Lynch Syndrome/HNPCC (MSH2)
  • Lynch Syndrome/HNPCC (MSH6)
  • Lynch Syndrome/HNPCC (PMS2)
  • Marfan Syndrome (FBN1)
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency (ACADM)
  • MEN2 (RET)
  • Multiple Endocrine Neoplasia Type 1 (MEN1)
  • Multiple Endocrine Neoplasia Type 2 (RET)
  • MUTYH-Associated Polyposis (MUTYH)
  • Neurofibromatosis Type 1 (NF1)
  • Noonan Syndrome (PTPN11)
  • Noonan Syndrome (SOS1)
  • Ornithine Transcarbamylase Deficiency (OTC)
  • Pancreatitis (CTRC)
  • Pancreatitis, Hereditary (PRSS1)
  • Pancreatitis, Idiopathic (SPINK1)
  • Parkes-Weber Syndrome (RASA1)
  • Peutz-Jeghers Syndrome (STK11)
  • Polycystic Kidney Disease, Autosomal Dominant (PKD1and PKD2)
  • PTEN-Related Disorders (PTEN)
  • Pulmonary Arterial Hypertension (BMPR2)
  • RASA1-Related Disorders (RASA1)
  • RET Gene Familial Mutation
  • Rett Syndrome (MECP2)
  • Smith-Lemli-Opitz Syndrome (DHCR7)
  • TACI-Associated Common Variable Immunodeficiency (TNFRSF13B)
  • Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (ACADVL)
  • von Willebrand Disease, Platelet Type (GP1BA)
  • von Willebrand Disease, Type 2A, 2B, 2M, or 2N (VWF)
  • von-Hippel-Lindau (VHL)
  • Whistling Face Syndrome (MYH3)
  • Wilsons Disease (ATP7B)
Familial Mutation, Targeted Sequencing, Fetal