Ordering Recommendation

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

Mnemonic
SEQ FSM FE
Methodology

Polymerase Chain Reaction/Sequencing

Performed

Sun- Sat

Reported

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
Collect

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:
Refrigerated

Unacceptable Conditions
Remarks

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.

Stability

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 Category

Laboratory Developed Test (LDT)

Note

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
N/A
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.

Components
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.
Aliases
  • (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