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.
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
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|
- (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)