Molecular Medicine Laboratory University of Sydney Department of

							                              Molecular Medicine Laboratory                                                         PRINT
                                   University of Sydney
                                 Department of Medicine
                                    Concord Hospital
Garth A. Nicholson MBBS PhD FRACP                                                      Clinical Sciences Building
Professor of Neurogenetics                                                                      Concord Hospital
Provider No: 298133K                                                                                  NSW 2139
                                                                                                    AUSTRALIA
Stephen Reddel MBBS PhD FRACP                                                      Telephone: +61(2) 9767 6797
Staff Specialist Neurology                                                          Facsimile: +61(2) 9767 6194
Provider No: 202085DY                                                           Email: molmed@med.usyd.edu.au

    SERVICE REQUEST FOR DNA ANALYSIS: SEND WITH BLOOD SAMPLE
SERVICE DETAILS: Please see         http://www.cs.nsw.gov.au/csls/CRGH/molMedicine/ for details of tests.

Please indicate: DIAGNOSTIC TESTING [ ] OR PREDICTIVE TESTING* [ ]. *Genetic counselling
required is required for all predictive testing. See
http://www.health.nsw.gov.au/archive/cib/circulars/2003/cir2003-25.pdf for guidelines. Predictive testing will
not be commenced without the signed consent, and two separate samples taken on separate occasions
are required.

Test requested:

Clinical information:


Family history & predicted mode of inheritance:


Other family members tested (Name and DOB):

The following tests are available:
Neuropathy (please attach NCS): CMT1A / HNPP (PMP22 duplication and deletion), CMT2A (MFN2), CMTX1
     (GJB1/Connexin 32), HSN1(SPTLC1). FOLLOWING DISCUSSION ONLY: PMP22 sequence, MPZ, NEFL,
     GDAP1.
Motor Neuron Disease: SOD1, Kennedy’s (AR).
Ataxia: Spinocerebellar Ataxia Type 1, 2, 3, 6, 7, either as a single SCA from a known family or as a whole set
     of screen. Friedreich’s Ataxia.
Muscle: Myotonic Dystrophy Type 1, Facioscapulohumeral Muscular Dystrophy
Others: Familial Parkinson’s Disease: alpha-synuclein, Hereditary Spastic Paraplegia (HSPG4, HSPG3A and
     SPG6)
Please note that all these tests are very expensive for your patient and discussion with the readily available
laboratory staff about which test/s is/are appropriate, and the likelihood of a positive result, is often worthwhile.
  Patient First Names:                                       Doctor:
                                                             Provider No:
  Patient Surname:
                                                             Address:
  DOB:
  Address:
                                                             Contact Ph:

                                                             Sign & date:
  Contact Ph:


                         SEND TO:                                           BLOOD COLLECTION:

  MOLECULAR MEDICINE LABORATORY,                                  •   EDTA TUBES
  CLINICAL SCIENCES BUILDING                                      •   Collect 10-20 mls,(babies minimum 1ml)
  CONCORD HOSPITAL, NSW 2139, AUSTRALIA                           •   Mix by gentle inversion for several minutes
                                                                  •   Transport AT ROOM TEMPERATURE
  Laboratory contact Ph: 02 97677009                              •   Must take less than 48 hours in transit.
                            Molecular Medicine Laboratory
                                 University of Sydney
                               Department of Medicine
                                  Concord Hospital
Garth A. Nicholson MBBS PhD FRACP                                                 Clinical Sciences Building
Professor of Neurogenetics                                                                 Concord Hospital
Provider No: 298133K                                                                             NSW 2139
                                                                                               AUSTRALIA
Stephen Reddel MBBS PhD FRACP                                                 Telephone: +61(2) 9767 6797
Staff Specialist Neurology                                                     Facsimile: +61(2) 9767 6194
Provider No: 202085DY                                                      Email: molmed@med.usyd.edu.au




SCHEDULE OF CHARGES FOR MOLECULAR GENETICS TESTING


 DIRECT TESTS                                                                    CHARGE
 Myotonic dystrophy type 1: DNA test by Southern analysis &/or PCR               $440
 Fascioscapulohumeral muscular dystrophy (FSHD) DNA test by Southern             $540
 analysis
 Kennedy’s disease Androgen receptor triplet repeat DNA test by PCR              $265
 Spinocerebellar Ataxia triplet repeat DNA test by PCR, 1 locus ONLY             $265
 (typically a known family or classical phenotype i.e. SCA7)
 Spinocerebellar Ataxias triplet repeat DNA test by PCR, SCA 1,2,3,6 & 7         $530
 together
 Friedreich’s Ataxia (FA): Frataxin triplet repeat DNA test by PCR               $325
 Parkinson’s disease: alpha synuclein point mutations DNA test by RFLP           $400
 (exons 3,4)


 MUTATION DETECTION
 Charcot Marie Tooth 1A (CMT1A) and Tomaculous Neuropathy / Hereditary           $395
 Neuropathy with Liability to Pressure Palsies (TN/HNPP) simultaneous DNA
 test by MLPA analysis
 Familial MND/ALS: Screen for SOD1 mutation by sequencing                        $400
 CMT-X1: Screen for GJB1 (connexion 32) mutation by sequencing                   $650
 CMT1A/E: Screen for PMP-22 mutation (exons 1,3,4) by sequencing                 $650
 CMT1B: Screen for MPZ / Po mutation (exons 2,3,4) by sequencing                 $650
 Hereditary Spastic Paraplegia (HSP): Screen for SPG4, SPG3 and SPG6             $800
 mutation by sequencing and MLPA
 Hereditary Spastic Paraplegia (HSP): Screen for SPG4 mutation only by           $500
 sequencing and MLPA
 Hereditary Sensory Neuropathy Type 1(HSN1): Screen for SPTLC-1 mutation         $550
 (exons 5,6) by sequencing
 Detection of a known specific family mutation by sequence analysis in any of    $200
 the above genes
ANTENATAL DIAGNOSIS
Please note that all antenatal testing should be discussed directly with
molecular medicine doctors prior to commencement of sampling and should
not just be “sent through”. There are times that antenatal diagnosis may not
be available unless prior arrangement has been made well in advance. Please
also note that at the time of publication there are outstanding medical
indemnity issues which may prevent antenatal testing being offered as a
service for the foreseeable future.
All antenatal diagnostic tests require referral from an appropriate doctor,
generally a clinical geneticist, and prior discussion with laboratory staff and
consultant(s). The abnormality should already have been determined to be
present and genetically demonstrable in a parent (or both in the case of FA),
even if the disorder appears likely on clinical grounds in a parent. The cost of
testing includes retesting both parents, even if previously tested in this
laboratory, and takes into account the need for urgency. Note that DM require
Southern blot analysis and the DNA available from the initial CVS /
amniocentesis is usually insufficient, requiring a repeat with cells cultured
from the collection.
The reliability of antenatal diagnosis is limited by the reliability of the cells
collected and separated being from the foetus and not from the mother, plus the
subsequent chain of specimen transport. This process takes place outside this
laboratory and we have not control over these aspects. Additionally the DNA
methods used in this laboratory have not been standardised for use on
specimens of foetal origin and we have inadequate numbers of foetal positive
and negative controls . It is also generally not repeatable in utero, whereas for
predictive testing in adults it is mandatory to perform testing on two separate
and discrete samples.
We therefore emphasise that antenatal testing cannot be taken to be an
absolutely reliable result. Decisions should be made in recognition of this and
the family concerned should be made aware of these limitations, and
acknowledge this advice in writing with the requesting practitioner.
Antenatal diagnosis requiring PCR, sequencing or RFLP (CMT1A, B, E and X, $800
TN/HNPP, Kennedy’s disease, SCA 1, 2, 3, 6, or 7, FA, MND/ALS/SOD1,
PD/ alpha synuclein, or HSN/SPTLC-1)
Antenatal diagnosis requiring Southern analysis (DM1)                               $1200


DNA EXTRACTION ONLY                                                                 $40
                                              Molecular Medicine Laboratory
                                                   University of Sydney
                                                 Department of Medicine
                                                    Concord Hospital
Garth A. Nicholson MBBS PhD FRACP                                                                                          Clinical Sciences Building
Professor of Neurogenetics                                                                                                          Concord Hospital
Provider No: 298133K                                                                                                                      NSW 2139
                                                                                                                                        AUSTRALIA
Stephen Reddel MBBS PhD FRACP                                                                                          Telephone: +61(2) 9767 6797
Staff Specialist Neurology                                                                                              Facsimile: +61(2) 9767 6194
Provider No: 202085DY                                                                                               Email: molmed@med.usyd.edu.au


                    PATIENT GENETIC TEST PRICING INFORMATION SHEET
                                 AND COST AGREEMENT


DNA analysis on (name)……………………………………………………………………


(address)……………………………………………………………………………………..


(contact numbers)…..……………………………………………………………………….


referred by Dr. ......................................................................................................................


for (name of test) .................................................................................Cost $ ........................

This is to inform you that there is currently no Medicare or private health insurance rebate for DNA testing,
including for the test indicated above. This is despite the test having been requested on a pathology request
form, and whether or not bulkbilling was requested on the form. The only exception to this is where the
patient is a public patient of a public hospital and that hospital has a pre-existing arrangement to cover the
cost of the test.

Please confirm that you agree to pay the above charge by signing below.

This agreement is required before the laboratory can proceed with your test, but it may be sent separately to
the blood sample. You will be invoiced by the accounts department upon the test having been completed. If
you have any difficulties with this cost please discuss this with the doctor who requested the test.



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Witness                                                                                           Date


Updated: 13/11/07