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Fragile X Syndrome

Order Code
481684
CPT
81243
Test Details
Synonyms

Fragile X testing

TAT

18 days. In some cases, additional time may be required for confirmatory or reflex tests.

Methodology

Polymerase chain reaction (PCR) followed by capillary electrophoresis for detection of CGG repeats, with reflex to AGG interruption analysis for CGG repeat sizes of 55-90 and methylation PCR analysis for CGG repeat sizes >149

Remarks

Storage Instructions:
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

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

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

This test is used for diagnostic testing and carrier screening for fragile X syndrome.

Specimen Type

Whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Volume

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Specimen Container

Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes, or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

Patient Preparation

Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

Collection

Standard phlebotomy. Follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions.

Specimen Stability
Temperature Period
Whole blood: Room temperature 14 days
Whole blood: 4°C 30 days
Buccal Room temperature 60 days
Saliva: Room temperature 60 days
Order Code
481684
CPT
81243
Test Details
Synonyms

Fragile X testing

TAT

18 days. In some cases, additional time may be required for confirmatory or reflex tests.

Methodology

Polymerase chain reaction (PCR) followed by capillary electrophoresis for detection of CGG repeats, with reflex to AGG interruption analysis for CGG repeat sizes of 55-90 and methylation PCR analysis for CGG repeat sizes >149

Remarks

Storage Instructions:
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.

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

Performing Location

Accredited Laboratory Partner

Testing Frequency

Contact Technical Support

Test Overview

This test is used for diagnostic testing and carrier screening for fragile X syndrome.

Specimen Type

Whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Volume

8.5 mL whole blood or PurFlock buccal swab kit or Oragene Dx saliva kit

Specimen Container

Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes, or PurFlock buccal swab kit or Oragene Dx 500 saliva collection kit

Patient Preparation

Do not eat, drink, smoke or chew gum 30 minutes prior to collection.

Collection

Standard phlebotomy. Follow PurFlock buccal swab kit or Oragene Dx 500 saliva kit collection instructions.

Specimen Stability
Temperature Period
Whole blood: Room temperature 14 days
Whole blood: 4°C 30 days
Buccal Room temperature 60 days
Saliva: Room temperature 60 days