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Printable Test Catalog - OU Medicine

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TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)<br />

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 1 mL<br />

TEST AVAILABILITY: Daily<br />

TURNAR<strong>OU</strong>ND TIME: 6-8 weeks<br />

OTHER NAMES: RET Gene Analysis in Hirschsprung disease<br />

METHODOLOGY: Polymerase chain reaction (PCR)<br />

CPT: 83891 x 12; 83892 x 2; 83894 x 12; 83898 x 12; 83904 x 24;<br />

83912<br />

[HSD3B2] HSD3B2 DNA SEQUENCING<br />

SPECIMEN REQUIRED: Whole blood at room temperature<br />

TUBE OR CONTAINER: Lavender (EDTA) or Yellow (ACD)<br />

SPECIAL HANDLING: Specimen must be received in laboratory by<br />

1:30 pm Monday-Thursday only<br />

Ship immediately to performing lab (must<br />

(arrive at Athena less than 24 hours after<br />

collection<br />

SPECIMEN VOLUME: 10 mL<br />

MINIMUM VOLUME: 2 mL<br />

TEST AVAILABILITY: Monday-Thursday<br />

TURNAR<strong>OU</strong>ND TIME: 2-8 weeks<br />

REFERENCE RANGE: No mutation detected<br />

METHODOLOGY: Polymerase Chain Reaction (PCR) and DNA sequencing<br />

CLINICAL USE: Detects mutations in the coding sequence of<br />

HSD3B2<br />

CPT: 83891; 83898 x 5; 83904 x 5; 83912<br />

[HSEP] HEREDITARY SPHEROCYTOSIS EVAL<br />

SPECIMEN REQUIRED: Refrigerated whole blood from patient and a<br />

normal unrelated person (label CONTROL)<br />

TUBE OR CONTAINER: Lavender (EDTA)<br />

SPECIAL HANDLING: Specimen must arrive in laboratory by 2:00 p.m<br />

on the day it is collected (Ship Mon-Fri only)<br />

A Control specimen must be included<br />

SPECIMEN VOLUME: 5 mL<br />

MINIMUM VOLUME: 3 mL<br />

TEST INCLUDES: Immediate and 24 hour incubation; band 3<br />

fluorescence staining if osmotic fragility test<br />

is abnormal<br />

TEST AVAILABILITY: Monday-Saturday<br />

TURNAR<strong>OU</strong>ND TIME: 72 hours<br />

REFERENCE RANGE: Normal<br />

METHODOLOGY: Osmotic lysis; Flow Cytometry<br />

CLINICAL USE: Useful for suspected hereditary spherocytosis<br />

CPT: 85557; 88184<br />

[HSN2] HERED SENSORY NEUROPATHY TYPE2<br />

SPECIMEN REQUIRED: Whole blood at room temperature

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