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Unit Code 88540:
Kallmann Syndrome, Xp22.3 Deletion, FISH

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Specimen Required

Please provide a reason for referral with each specimen. The

laboratory will not delay or reject testing if this information is not

provided, but appropriate testing and interpretation may be

compromised.

 

Submit only 1 of the following specimens:

 

Amniotic Fluid

Optimal timing for specimen collection is during 16 to 18 weeks

of gestation, but specimens collected at other weeks of gestation

are also accepted. Draw 20 mL to 25 mL of amniotic fluid in a sterile

syringe (we strongly recommend Pharmaseal amniocentesis tray

distributed by Cardinal Health Company). Discard the first 2 mL of

amniotic fluid, and send the remainder to the laboratory. When using

a Pharmaseal Amniocentesis Kit, transfer the amniotic fluid into the

provided transport containers. If Pharmaseal amniocentesis tray is

not available, use a Becton-Dickinson syringe and transport

specimen as follows. Remove needle and transfer specimen to

2 screw-capped, sterile 15-mL centrifuge tubes. Place the tubes in a

Styrofoam container (Supply T329). Fill remaining space with packing

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

viable. Bloody specimens are undesirable. If specimen does not grow

in culture, you will be notified within 7 days of receipt. Label container

with patient's name and laboratory control number. Send specimen

refrigerated. Specimen cannot be frozen. Advise Express Mail or

equivalent if not on courier service. Results will be reported and also

telephoned or faxed, if requested.

Note:    If ordering electronically, please complete and submit a

             "MayoConnect Additional Test Information Form" (Supply

             T357 or see Special Instructions) with the specimen. If not

             ordering electronically, please complete and submit a

             "Cytogenetics/AFP Congenital Disorders Request Form"

             (Supply T238) with the specimen.

 

Autopsy

Wash biopsy site with an antiseptic soap (eg, pHisoHex). Thoroughly

rinse area with sterile water. Do not use alcohol or iodine preparations.  

Biopsy specimens are best taken by punch biopsy to include full

thickness of dermis. Biopsy should be 4 mm in diameter. Aseptically

place biopsy in a screw-capped, sterile container with sterile Hank's

balanced salt solution, Ringer's solution, or normal saline. (Hank's

balanced salt solution [Supply T132] is supplied.) Do not handle

with hands. Label container with patient's name and laboratory

control number. Send specimen refrigerated. Specimen cannot be

frozen. Advise Express Mail or equivalent if not on courier

service.

Note:    If ordering electronically, please complete and submit a

             "MayoConnect Additional Test Information Form" (Supply

             T357 or see Special Instructions) with the specimen. If not

             ordering electronically, please complete and submit a

             "Cytogenetics/AFP Congenital Disorders Request Form"

             (Supply T238) with the specimen.

 

Blood

Draw blood in a green-top (sodium heparin) tube(s), and send

5 mL of sodium heparin whole blood. Invert several times to mix

blood. (Clotted blood is not acceptable.) Other anticoagulants

are not recommended and are harmful to the viability of the cells.

Label vial with patient's name and laboratory control number. Forward

promptly at ambient temperature. Specimen cannot be frozen.

Advise Express Mail or equivalent if not on courier service.  

Note:    If ordering electronically, please complete and submit a

             "MayoConnect Additional Test Information Form" (Supply

             T357 or see Special Instructions) with the specimen. If not

             ordering electronically, please complete and submit a

             "Cytogenetics/AFP Congenital Disorders Request Form"

             (Supply T238) with the specimen.

 

Chorionic Villi

Obtain 20 mg to 25 mg of a chorionic villus specimen (CVS) by

transabdominal or transcervical method. Transfer CVS to a

Petri dish containing transport medium. Using a stereomicroscope

and sterile forceps, assess quality and quantity of villi; and

remove any blood clots and maternal decidua. Transfer CVS

by using sterile technique to one or two 15-mL centrifuge tube(s)

with 15 mL of transport medium. (Petri dishes and transport medium

[Supply T095] are supplied.) Label centrifuge tube(s) with

patient's name and laboratory control number. Send specimen

refrigerated. Specimen cannot be frozen. Advise Express Mail

or equivalent if not on courier service.

Note:    If ordering electronically, please complete and submit a

             "MayoConnect Additional Test Information Form" (Supply

             T357 or see Special Instructions) with the specimen. If not

             ordering electronically, please complete and submit a

             "Cytogenetics/AFP Congenital Disorders Request Form"

             (Supply T238) with the specimen.

 

Fixed Cell Pellet

Place specimen in a screw-capped, sterile container with a 3:1

fixative (methanol:glacial acetic acid). Forward promptly at ambient

temperature. Specimen cannot be frozen. Advise Express

Mail or equivalent if not on courier service.

Note:    If ordering electronically, please complete and submit a

             "MayoConnect Additional Test Information Form" (Supply

             T357 or see Special Instructions) with the specimen. If not

             ordering electronically, please complete and submit a

             "Cytogenetics/AFP Congenital Disorders Request Form"

             (Supply T238) with the specimen.

 

Products of Conception or Stillbirth

Where a fetus is identified, obtain a 1-cm(3) biopsy specimen of

muscle/fascia from thigh and about 1-cm(3) of placenta

(including 20 mg chorionic villi). Do not send entire fetus. If

a fetus cannot be specifically identified, collect villus material or

tissue that appears to be of fetal origin. Do not handle with hands.

Aseptically place each specimen in a screw-capped, sterile

container with sterile Hank's balanced salt solution, Ringer's

solution, or normal saline. (Hank's balanced salt solution

[Supply T132] is supplied.) Label each container with specimen type,

patient's name, and laboratory control number. Send specimen

refrigerated. Specimen cannot be frozen. Advise Express Mail

or equivalent if not on courier service.

Note:    1. If a fetus is sent, please provide a parental release form or

                 complete the "Final Disposition of Fetal/Stillborn Remains"

                 form and send it with the fetus. (A copy of this form can be

                 found in Special Instructions.) Please note that completion

                of the form requires a parent's signature.

            2.  If ordering electronically, please complete and submit a

                 "MayoConnect Additional Test Information Form" (Supply

                 T357 or see Special Instructions) with the specimen. If not

                 ordering electronically, please complete and submit a

                 "Cytogenetics/AFP Congenital Disorders Request Form"

                 (Supply T238) with the specimen.

 

Skin Biopsy

Wash biopsy site with an antiseptic soap (eg, pHisoHex).

Thoroughly rinse area with sterile water. Do not use alcohol or

iodine preparations. A local anesthetic may be used. Biopsy

specimens are best taken by punch biopsy to include full

thickness of dermis. Biopsy should be 4 mm in diameter.

Aseptically place biopsy in a screw-capped, sterile container

with sterile Hank's balanced salt solution, Ringer's solution, or

normal saline. (Hank's balanced salt solution [Supply T132] is

supplied). Do not handle with hands. Label container with

patient's name and laboratory control number. Send specimen

refrigerated. Specimen cannot be frozen. Advise Express Mail

or equivalent if not on courier service.  

Note:    If ordering electronically, please complete and submit a

             "MayoConnect Additional Test Information Form" (Supply

             T357 or see Special Instructions) with the specimen. If not

             ordering electronically, please complete and submit a

             "Cytogenetics/AFP Congenital Disorders Request Form"

             (Supply T238) with the specimen.

Transport Temperature

Varies
Ambient\Refrig OK\Frozen NO - Blood, Fixed Cell Pellet
Refrig\Ambient OK\Frozen NO - Amniotic Fluid, Autopsy,
Chorionic Villi, Products of Conception, Skin Biopsy  

Reject Due To

Specimens Other Than:                 Blood, amniotic fluid, chorionic villus

                                                                autopsy, products of conception,

                                                                fixed cell pellet, skin biopsy

Anticoagulants Other Than:           ACD, lithium heparin, sodium heparin

Hemolysis:                                          No

Thawing:                                              NA

Lipemia:                                               No

Day(s) and Time(s) Test Performed

Monday through Friday; 6:30am - 5:00pm


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