KARYOTYPING, PRENATAL, AMNIOTIC FLUID/ CHORIONIC VILLUS SAMPLING (CVS)

Sub Category

Cytogenetics

Synonym/Aliases

N/A

Abbreviations

N/A

^Type

Individual Test

^Results

RESULTS READY WITHIN 18 - 21 DAYS

^Method

CHROMOSOMAL ANALYSIS VIA CELL CULTURE, EXPOSURE TO MITOGENS, BANDED KARYOGRAMS & MICROSCOPIC ANALYSIS OF METAPHASE CELLS.

^Temp

REFRIGERATE. TIME SENSITIVE THREFORE NOTIFY LAB PRIOR TO COLLECTION & PROMPTLY DELIVER SAMPLE TO THE LAB.

^Setup

BATCHED

Components Parameters

- N/A

PRE-ANALYTIC CONSIDERATIONS

Test Ordering Instructions

FILL OUT TEST REQUEST FORM FULLY & LEGIBLY. CLINICAL HISTORY, INDICATION & ULTRASOUND FINDINGS REQUIRED. NOTIFY THE LAB PRIOR TO COLLECTION. CONSIDER CHROMOSOMAL MICROARRAY (CMA) AS A POSSIBLE ALTERNATIVE TEST.

Patient preparation

IN CASE OF SELF SAMPLING, MANUFACTURER'S INSTRUCTIONS FOR SELF COLLECTED SPECIMENS APPLY.

Sample type

CHORIONIC VILLI (1ST TRIMESTER) OR AMNIOTIC FLUID (2ND TRIMESTER).

Container/ preservative

1ST TRIMESTER: CHORIONIC VILLI IN TISSUE CULTURE MEDIA (OR RPMI/ HANK'S/ RINGER'S LACTATE/ NORMAL SALINE TO WHICH 2-3 DROPS OF GENTAMICIN HAVE BEEN ADDED). 2ND TRIMESTER: 20ML AMNIOTIC FLUID IN STERILE FALCON TUBE. ENSURE PROPER, LEAK PROOF CAPPING.

Sample volume

20ML AMNIOTIC FLUID (IN STERILE CONTAINER; DISCARD FIRST 2ML TO AVOID CONTAMINATION WITH MATERNAL CELLS.) / 20MG CHORIONIC VILLI BIOPSY (IN TISSUE CULTURE MEDIA/ NORMAL SALINE WITH GENTAMICIN DROPS).

Rejection criteria

LABELING ISSUE (UNLABELED/ MISLABELED); MISSING REQUEST FORM; MISMATCH BETWEEN REQUEST FORM & SAMPLE DETAILS; MISSING AGE/ GENDER; WRONG SAMPLE TYPE; INSUFFICIENT SAMPLE; FROZEN SAMPLE.

Other Instructions

IDENTIFY SAMPLES FROM TWINS UNIQUELY WHERE APPLICABLE.

Reference intervals

INTERPRETIVE DATA IS PROVIDED ON THE REPORT.

Clinical Utility

DETECTS NUMERICAL & STRUCTURAL CHROMOSOMAL ABNORMALITIES WITHIN THE ASSAY'S LIMIT OF DETECTION.

Test Limitations/ Confounders

A NORMAL RESULT DOES NOT COMPLETELY EXCLUDE GENETIC DISORDERS E.G. SINGLE GENE DISORDERS, SUBMICROSCOPIC CYTOGENETIC ABNORMALITIES BELOW THE ASSAY'S DETECTION LIMIT.