Test Details
Methodology
Next-generation sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions, deletions and copy number variants (CNVs).
Maternal cell contamination (MCC) analysis includes analysis of short tandem repeat markers by multiplex fluorescent polymerase chain reaction (PCR) and capillary electrophoresis.
Result Turnaround Time
14 - 21 days; in some cases, additional time may be required for confirmatory or reflex tests. If culture is needed, an additional 14-21 days may be required. Additional culture fee may be applied.
Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.
Test Includes
This test includes all genes included in any GeneSeq® Connective Tissue panels.
Use
This test is used for prenatal diagnosis for pregnancies at risk for genes included in any GeneSeq® Connective Tissue panels.
Special Instructions
This test currently is not approved for use in New York state.
The specific gene(s) to be analyzed must be indicated on the test requisition form. Failure to indicate the gene(s) will result in testing delays. Variants of uncertain significance (VUS) will be reported.
Labcorp clients with eight-digit client account numbers should call 800-345-4363, and Labcorp Genetics & Women's Health clients with six-digit client/subclient account numbers should call 800-255-7357 to speak with a laboratory genetic coordinator before collecting specimens. In some circumstances, specimens from both parents and other family members may be required. All fetal specimens, including cord blood, must be accompanied by a maternal blood, PurFlock buccal swab kit or Oragene Dx 500 saliva kit for maternal cell contamination (MCC). A separate requisition should be submitted with the maternal specimen.
Limitations
Technologies used do not detect germline mosaicism and do not rule out the presence of large chromosomal aberrations, including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants or repeat expansions. Variant classification and/or interpretation may change over time if more information becomes available. False positive or false negative results may occur for reasons that include rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples or erroneous representation of family relationships.
This test was developed and its performance characteristics determined by Labcorp. It has not been cleared or approved by the Food and Drug Administration.
Specimen Requirements
Specimen
Amniotic fluid or chorionic villus sample (CVS) or cultured cells or cord blood (direct amniotic fluid or CVS specimen may be submitted; additional culture fee may be applied)
Volume
Amniotic fluid: 20 mL or CVS: 10 mg or cultured amniotic fluid: two confluent T-25 flasks or cultured CVS: two confluent T-25 flasks or 4 mL cord blood (if amniotic fluid or CVS are cultured at another facility, please maintain back-up cultures)
Minimum Volume
Amniotic fluid: 20 mL or CVS: 10 mg or cultured amniotic fluid: two confluent T-25 flasks or cultured CVS: two confluent T-25 flasks or 3 mL cord blood
Container
Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask
Cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes
Collection Instructions
Standard sterile techniques; transfer aseptically to sterile tubes.
Amniotic fluid: Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.
Stability Requirements
Please ship expedited at room temperature.
Storage Instructions
Maintain specimen at room temperature. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
References
Bowen JM, Sobey GJ, Burrows NP, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. PubMed 28192633
LOINC® Map
| Order Code | Order Code Name | Order Loinc | Result Code | Result Code Name | UofM | Result LOINC |
|---|---|---|---|---|---|---|
| 631303 | Connective Tissue Gene, Fetal | 631304 | Specimen Type | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631305 | Indication | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631306 | Fetus ID | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631307 | Result | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631308 | Interpretation | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631309 | General Comments | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631310 | MCC, Maternal Control | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631311 | Recommendations | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631312 | Clinical Information | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631313 | Comments | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631314 | Methods/Limitations | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631315 | References | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631316 | Director Review/Release | Pending | ||
| 631303 | Connective Tissue Gene, Fetal | 631317 | IMAGE | Pending | ||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631304 | |||||
| Result Code Name | Specimen Type | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631305 | |||||
| Result Code Name | Indication | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631306 | |||||
| Result Code Name | Fetus ID | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631307 | |||||
| Result Code Name | Result | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631308 | |||||
| Result Code Name | Interpretation | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631309 | |||||
| Result Code Name | General Comments | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631310 | |||||
| Result Code Name | MCC, Maternal Control | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631311 | |||||
| Result Code Name | Recommendations | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631312 | |||||
| Result Code Name | Clinical Information | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631313 | |||||
| Result Code Name | Comments | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631314 | |||||
| Result Code Name | Methods/Limitations | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631315 | |||||
| Result Code Name | References | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631316 | |||||
| Result Code Name | Director Review/Release | |||||
| UofM | ||||||
| Result LOINC | Pending | |||||
| Order Code | 631303 | |||||
| Order Code Name | Connective Tissue Gene, Fetal | |||||
| Order Loinc | ||||||
| Result Code | 631317 | |||||
| Result Code Name | IMAGE | |||||
| UofM | ||||||
| Result LOINC | Pending |