MOLECULAR DIAGNOSTIC LAB
http://pathology.wustl.edu/patientcare/moldiagnostic.php
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Director:
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Jacquline E. Payton, M.D., Ph.D., Lab
Director Instructor,
Division of Laboratory and Genomic Medicine Office:
314-362-5935 jpayton@path.wustl.edu |
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Technical
Supervisor: |
Agnes
Austria 314-454-7601;
FAX 454-8485 Axa7966@bjc.org |
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Location:
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BJH North
Campus, 216 S. Kingshighway Room 2320 454-8685;
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Test
Menu: |
Direct
mutation detection for inherited genetic and molecular pathology
disorders including: Fragile X Syndrome, FXTAS, Cystic Fibrosis, LCHAD and
MCAD deficiencies, Prader-Willi/Angelmen Syndrome
(PWS-AS), Beckwith-Wiedemann Syndrome(BWS), Factor
V Leiden, Prothrombin gene mutation, MEN2A/FMTC,
MEN2B; hematopathology testing including BCR-ABL,
PML-RAR alpha, BCL2, FLT3, JAK2, Hematopoietic stem
cell engraftment studies, IgH and TCR gamma gene
rearrangements, IGJH somatic hypermutation, Thymidylate synthase enhancer
mutation, UGT1A1 mutation detection (currently done as research), Warfarin Sensitivity (CYP2C9 and VKORC1), and hTERC Dyskeratosis Congenita. |
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Saromas Alveolar Rhabdomyosarcoma,
Ewings/PNET Sarcoma, DSRCT-Desmoplastic
small round cell tumor and Snyovial Sarcoma
detected by fusion gene message and direct DNA sequencing. |
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MDL
Request Form must accompany all specimens. |
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Face
sheet with patient demographics required for billing
information. |
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Tests
require lavender top EDTA peripheral blood specimens. |
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Bone
marrow specimens also accepted when appropriately anticoagulated. |
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Skin or
lymph node biopsies (fresh, frozen or paraffin embedded) and buccal swabs also accepted. |
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Test
reports are posted directly in Clincal Desktop and
mailed directly to requesting physician. |
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For
information regarding specimen requirements, results, and test interpretation
please call 454-8685 or 454-7601 or view website (listed above). |
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