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Genetic Testing

Disclaimer Notice: The Periodic Paralysis Association has not reviewed any of the procedures, research protocols, or potential risks associated with this offer of services. The Periodic Paralysis Association assumes no responsibility for outcome, harm, or expense associated with participation in any research or related activity associated with this service offering. Each individual participant is advised to carefully review all aspects of any medical procedure they are considering with their own physician.


Genetic Services for Periodic Paralysis  & Non-dystrophic Myotonias
Provided by:


Prof. Dr. Dr.h.c. Frank Lehmann-Horn
Hertie Senior Research Professor of Neurosciences
Division of Neurophysiology, Ulm University,
Albert-Einstein-Allee 11, 89081 Ulm, Germany

Through a generous partnership with the Periodic Paralysis Association Dr. Lehmann- Horn has offered to provide this service at no charge for members of the PPA. Patients MUST be registered members of the PPA. This is a free membership and the PPA Membership form can be accessed on the Homepage of this website.

If you have any questions, please contact Linda Feld, our Genetic Testing Liaison via:

 

  • Inquiries Form (preferred method)
  • Email:  lfeld @ cfl . rr . com [spaces placed to prevent spam]


 

Table of Contents


 

Obtaining Results of Genetic Testing

Results of the genetic testing will be communicated to the consenting physician who drew and submitted the patient’s blood sample being tested. It is at the physician’s prerogative if, how and when to communicate the results to the patient. For those physicians who are uncomfortable relating the results of the genetic testing, one might consider involving a genetics counselor. Please allow some months for results to be ready. If one year has elapsed, the patient is encouraged to send to Dr. Lehmann-Horn the name and address of the doctor to whom the results should be sent.

For those patients submitting blood samples without a consenting physician Dr. Lehmann-Horn will act as your doctor of record and will communicate with you personally.

For all patients please take note: You will receive a letter from Dr. Lehmann-Horn at the University of Ulm soon after your DNA testing begins. This letter will indicate your family CODE numbers which are part of the record keeping done in Ulm. These CODES in no way indicate your genetic mutation. You will receive 2 "codes". One will be for HYPO testing and the other one will be for HYPER testing. If asked in this letter for more information please always include these family codes in your correspondence with Ulm.


DNA Sample Shipment to Ulm Germany

Dr. Lehmann-Horn has asked us to remind you to include the following information in the FEDEX form, however,U.S. residents should please contact Linda Feld at 407-339-9499 or lfeld @ cfl . rr . com before proceeding further:

The most important consideration is that sample tubes must be packed in BREAK-PROOF shipping containers.
  1. Sample origin: human
  2. Sample material: whole EDTA blood (or extracted DNA in the rare cases)
  3. Sample purpose: genetic testing (research) in-vitro. Sample will be used in the lab and not administered to humans or animals.
  4. Package Contents MUST ONLY BE LABELED AS “Non Hazardous - Non Infectious Human Blood Sample" Do NOT write anything else except this wording.
  5. If asked for the value of the package contents, you can state the value of the sample as $1 U.S. Mentioning this symbolic value prevents potential difficulties by Customs.
  6. Recently FEDEX in some locations have also been requiring a Customs Form to be filled out. This information is exactly the same information included on the Waybill. Please copy the Waybill word for word and make no variations. DO NOT allow FedEx to require you to fill out a country of origin form with a notarized signature. This is only necessary for ANIMAL blood.


Important Information on How to Store and Send Blood Samples for Genetic Examination

For genetic testing, the laboratory needs 20 ml of whole blood in EDTA (purple top) PLASTIC tubes.  If you are asked to send a blood sample from a child from whom drawing 20 ml blood may be difficult, the laboratory can work with a minimum of 7 ml.   Alternatively your doctor can send genomic DNA extracted from the white blood cells of your sample. The DNA extraction is much more stable than whole blood.

ALSO SEE THE REQUIRED PATIENT AND MEDICAL INFORMATION FORMS PROVIDED BELOW

You can view the documents listed below by clicking on the link and letting the document open to your computer screen. These documents can be viewed, saved to your computer, or printed for hard copy for your doctor or your own personal files, or for submission by mail or fax. These forms MUST accompany your blood sample. Please fill out all the forms listed on the link below.

Please be patient while these files download. It may take a few minutes depending on the speed of your Internet connection
.

http://www.uni-ulm.de/en/med/division-of-neurophysiology/diseases/forms-for-genetics.html

Before you have your blood drawn make certain that you have all the materials for packaging available to you    and be ready to ship your blood as soon as it is drawn. ONLY ship the sample on a Monday or Tuesday so that it will not sit in Customs over the weekend OR over a holiday.  If you need specific packaging instructions, you can review those provided  below:


Packaging Guidelines

Before you have your blood drawn make certain that you have all the materials for packaging available to you and be ready to ship your blood as soon as it is drawn. ONLY ship the sample on a Monday or Tuesday so that it will not sit in Customs over the weekend OR over a holiday. 

  • The Laboratory requires 20ml of blood drawn into PLASTIC purple top (EDTA) vaccutainers (see notes below for small children). Every tube must have your FULL name and birth date clearly labeled on it.

              

  • You can use a container like the Ziploc Plastic Food Storage container (NOT the bag) This should be the hard plastic container, clear color with blue lid. This container provides good protection for the samples. The samples must fit securely inside the container and the lid should snap tightly shut. The Ziploc container should be labeled neatly with your FULL name and birth date.

             

  • You will need absorbant paper towels or some bubble wrap, to wrap the vaccutainers in before it is sealed inside the Ziploc container.

                   

  • You will need a VERY sturdy cardboard box to hold your Ziploc container. The box should NOT have any writing on the outside of it, as this is confusing for the Customs Service. You will also need Styrofoam peanuts, or more bubble wrap, for packing. You also need a STRONG roll of tape such as Scotch Packing tape. DO NOT use paper wrapping, string, or tape you have to moisten to stick.

               

  • A black Magic Marker 

           

  • FEDEX International Priority Air Waybill.  FEDEX Customs Form
  • Paperwork from Dr. Lehmann-Horn (see links to documents at the bottom of this page)


Putting the Package Together
 
  1. Draw blood and make sure each tube is labeled correctly. 
  2. Immediately, wrap the tubes of blood in absorbant toweling or bubble wrap, making sure there is enough to keep them from rolling or rattling. NO ICE NEEDED
  3. Put tubes of blood in the Ziploc container and seal the container. Make sure you hear the “pop”. Label container with your name and birth date. 
  4. Place your Ziploc package into a sturdy cardboard box and surround it with Styrofoam “peanuts” or bubble wrap to insure a snug fit in the box. 
  5. MAKE SURE you have included all the Paperwork that must accompany the sample that is required by Dr. Lehmann – Horn (See documents below).
  6. Seal the package with tape. Make sure there is no way for it to open and that there are no rough edges.
  7. Fill out the FEDEX International Priority Air Waybill and FEDEX Customs Form
  8. MOST IMPORTANT: On the FEDEX Air Waybill and FEDEX Customs Form it will ask for package contents. In this space you should write in “Non Hazardous - Non Infectious Human Blood Sample" Do NOT write anything else except this wording.  Value on this package should be listed as $1.00 ( U.S.) Do not tape this label to the package. CARRY it with you to the FEDEX office. 
  9. TAKE package to a FEDEX location. NOT a “private shipper” like “Mail Boxes Etc.” It MUST go to a FEDEX shipping center. There are MANY of these locations all over the U.S. and Canada and if you need to find one you can call 1-800-GO-FEDEX. These packages cannot be shipped by any other transport into Germany because of their VERY strict import laws. Don’t even try, as you will get the package back in your hands.
  10. It is a good idea to start this process early in the day and early in the week. If you have everything assembled before shipping it will work like a charm! You will have to pay the shipping costs to Germany and depending on your location they can range from $80.00 to $110.00. This is the only cost involved on your behalf for this very detailed testing.


Questions?

If you have questions please contact Linda Feld at 407-339-9499 or email lfeld @ cfl . rr . com [spaces deliberately left to prevent spam] or via our INQUIRIES FORM (preferred)

To find your nearest FedEx Shipping Center, the FedEx web site is located at: http://www.fedex.com  

 

 

GENERAL EDUCATION ABOUT GENETICS:

http://www.emc.maricopa.edu/faculty/farabee/BIOBK/BioBookgenintro.html