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Test ID: FP73    
1p36.3 Microdeletion Syndrome, FISH

Available on the App Store

Specimen Type Describes the specimen type needed for testing

Varies

Specimen Required Defines the optimal specimen. This field describes the type of specimen required to perform the test and the preferred volume to complete testing. The volume allows automated processing, fastest throughput and, when indicated, repeat or reflex testing.

Provide a reason for referral with each specimen. The laboratory will not reject testing if this information is not provided, but appropriate testing and interpretation may be compromised or delayed.

 

Forms:

1. New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing (Supply T576) is available in Special Instructions.

2. If not ordering electronically, submit a Cytogenetics/AFP Congenital Disorders Request Form (Supply T238) with the specimen.

 

Advise Express Mail or equivalent if not on courier service.

 

Submit only 1 of the following specimens:

                                 

Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20-25 mL

Collection Instructions:

1. Optimal timing for specimen collection is during 14 to 18 weeks of gestation, but specimens collected at other weeks of gestation are also accepted. Provide gestational age at the time of amniocentesis.

2. Discard the first 2 mL of amniotic fluid.

Additional Information:

1. Place the tubes in a Styrofoam container (Supply T329).

2. Fill remaining space with packing material.

3. Unavoidably, about 1% to 2% of mailed-in specimens are not viable.

4. Bloody specimens are undesirable. If the specimen does not grow in culture, you will be notified within 7 days of receipt.

5. Results will be reported and also telephoned or faxed, if requested.

 

Specimen Type: Autopsy

Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline

Specimen Volume: 4-mm diameter

Collection Instructions:

1. Wash biopsy site with an antiseptic soap.

2. Thoroughly rinse area with sterile water.

3. Do not use alcohol or iodine preparations.

4. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.

 

Specimen Type: Blood

Container/Tube: Green top (sodium heparin)

Specimen Volume: 5 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Other anticoagulants are not recommended and are harmful to the viability of the cells.

 

Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20-25 mg

Collection Instructions:

1. Collect specimen by the transabdominal or transcervical method.

2. Transfer the CVS to a Petri dish containing transport medium (Supply T095).

3. Using a stereomicroscope and sterile forceps, assess the quality and quantity of the villi and remove any blood clots and maternal decidua.

 

Specimen Type: Fixed cell pellet

Container/Tube: Sterile container with a 3:1 fixative (methanol:glacial acetic acid)

Specimen Volume: Entire specimen

 

Specimen Type: Products of conception or stillbirth

Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline

Specimen Volume: 1 cm(3) of placenta (including 20 mg of chorionic villi) and 1-cm(3) biopsy specimen of muscle/fascia from thigh

Collection Instructions: If a fetus cannot be specifically identified, collect villus material or tissue that appears to be of fetal origin.

Additional Information: Do not send entire fetus.

Forms: Final Disposition of Fetal/Stillborn Remains (if fetal specimen is sent) in Special Instructions.

 

Specimen Type: Skin biopsy

Container/Tube: Sterile container with sterile Hank's balanced salt solution (Supply T132), Ringer's solution, or normal saline

Specimen Volume: 4-mm diameter

Collection Instructions:

1. Wash biopsy site with an antiseptic soap.

2. Thoroughly rinse area with sterile water.

3. Do not use alcohol or iodine preparations.

4. A local anesthetic may be used.

5. Biopsy specimens are best taken by punch biopsy to include full thickness of dermis.

Specimen Minimum Volume Defines the amount of specimen required to perform an assay once, including instrument and container dead space. Submitting the minimum specimen volume makes it impossible to repeat the test or perform confirmatory or perform reflex testing. In some situations, a minimum specimen volume may result in a QNS (quantity not sufficient) result, requiring a second specimen to be collected.

Amniotic Fluid: 5 mL/Autopsy, Skin Biopsy: 4 mm/Blood: 2 mL/Chorionic Villi: 5 mg/Fixed Cell Pellet: 1 pellet/Products of Conception: 1 cm(3)

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Hemolysis

NA

Lipemia

NA

Icterus

NA

Other

Clotted blood

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the laboratory. Alternate acceptable temperature(s) are also included.

Specimen TypeTemperatureTime
VariesAmbient (preferred)
 Refrigerated