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
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).
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)
Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Amniotic Fluid: Room temperature.
Maternal Specimen: Refrigerated
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
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.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
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
CPT codes vary based on gene
|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|
- (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)