Noonan Syndrome, Fetal Analysis

TEST: 482299
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CPT: 81442
Updated on 03/19/2024
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Test Includes

This test includes the following genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2 and SPRED1.

This test includes the following genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2 and SPRED.

This test includes the following genes: BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NRAS, PPP1CB, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2 and SPRED1.

Special Instructions

Labcorp clients with 8-digit client account numbers should call 800-345-4363 and Labcorp Genetics & Women's Health clients with 6-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.

Expected 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.

Related Documents

For more information, please review the literature below.

Consent for genetic testing

GenSeq®: Cardio brochure

Noonan Syndrome and RASopathies Clinical Questionnaire

    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; CVS: 20 mg; amniotic fluid and CVS culture: 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.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: 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.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: 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.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: 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.)

    Amniotic fluid: 20 mL; CVS: 20 mg; amniotic fluid and CVS culture: 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; CVS: 20 mg; amniotic fluid and CVS culture: 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

    Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes

    Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes

    Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes

    Amniotic fluid or CVS: sterile plastic conical tube or T-25 flask; cord blood: yellow-top (ACD-A) or lavender-top (EDTA) tubes

    Collection

    Standard sterile techniques; transfer aseptically to sterile tubes. Amniotic fluid: Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.

    Storage Instructions

    Maintain specimen at room temperature. Do not freeze.

    Stability Requirements

    Please ship expedited at room temperature.

    Causes for Rejection

    Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container

    Test Details

    Use

    This test is used for prenatal diagnosis for at-risk pregnancies or when abnormalities are seen on fetal ultrasound.

    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.

    Methodology

    Noonan syndrome: Next Generation Sequencing to identify genetic variants, including small nucleotide variants (SNVs), insertions and deletions.

    Maternal cell contamination analysis (MCC): Analysis of short tandem repeat markers by multiplex fluorescent polymerase chain reaction (PCR) and capillary electrophoresis.

    References

    Ali MM, Chasen ST, Norton ME. Testing for Noonan syndrome after increased nuchal translucency. Prenat Diagn. 2017 Aug;37(8):750-753.28569377
    Stuurman KE, Joosten M, van der Burgt I, et al. Prenatal ultrasound findings of rasopathies in a cohort of 424 fetuses: update on genetic testing in the NGS era. J Med Genet. 2019 Oct;56(10):654-661.31040167

    LOINC® Map

    Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
    482299 Noonan Syndrome, Fetal 482280 Genes 48018-6
    482299 Noonan Syndrome, Fetal 482281 Ethnicity 42784-9
    482299 Noonan Syndrome, Fetal 482282 Specimen Type 31208-2
    482299 Noonan Syndrome, Fetal 482283 Genetic Counselor 89993-0
    482299 Noonan Syndrome, Fetal 482284 Indication 42349-1
    482299 Noonan Syndrome, Fetal 482285 Fetal ID 11951-1
    482299 Noonan Syndrome, Fetal 482286 Result: 48003-8
    482299 Noonan Syndrome, Fetal 482287 Interpretation 53039-4
    482299 Noonan Syndrome, Fetal 482288 General Comments 8262-8
    482299 Noonan Syndrome, Fetal 482289 MCC, Maternal Control 59266-7
    482299 Noonan Syndrome, Fetal 482290 Recommendations 62385-0
    482299 Noonan Syndrome, Fetal 482291 Additional ClinicalInformation 55752-0
    482299 Noonan Syndrome, Fetal 482292 Comments 8251-1
    482299 Noonan Syndrome, Fetal 482293 Methods/Limitations 49549-9
    482299 Noonan Syndrome, Fetal 482294 References 75608-0
    482299 Noonan Syndrome, Fetal 482295 Genes Analyzed 48018-6
    482299 Noonan Syndrome, Fetal 482296 Director Review/Release 42786-4
    482299 Noonan Syndrome, Fetal 482297 PDF 51969-4

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