The Clinic for Special Children
 
 
Clinic for Special Children
535 Bunker Hill Road
Strasburg, PA 17579
Phone: 717-687-9407
Fax: 717-687-9237
Clinic Director:
D. Holmes Morton, MD
 
Executive Director:
Caroline Morton, EdM
 
Laboratory Director:
Erik G. Puffenberger, PhD
 
Pediatrician:
Kevin A. Strauss, MD
 
Nurse Practitioner:
Donna L. Robinson, CRNP
 
Nurse:
Christine Hendrickson, RNC
 
Lab Technician:
Roy Martin
 
Co-Office Manager:
Rebecca Smoker
 
Co-Office Manager:
Miriam Echternach
 
 
Laboratory Services
    The laboratory at the Clinic for Special Children performs amino acid analysis, urine organic acid analysis, and molecular genetic analyses. Since the clinic is a small, non-profit organization substantially supported by the unique populations we serve, the laboratory does not accept outside samples for amino acid analysis and organic acid analysis. We do not possess the resources necessary to provide these services to outside patients. These tests are readily available at other testing laboratories throughout the country. Information for these tests is provided here for the benefit of our patients and their families. However, due to the unavailability of molecular genetic testing, the clinic laboratory does accept samples from outside parties for mutation detection and mutation identification.
 
    In order to submit samples for testing, please follow ALL the instructions below (please note that our payment procedure has changed):
 
    1) Prior Approval: All outside requests for testing must have prior approval from Dr. Holmes Morton, Clinic Director, and/or Dr. Erik G. Puffenberger, Laboratory Director, by calling 717-687-9407.
 
    2) Specimen requirements:
    Molecular Genetic Analysis by PCR/Sequencing: 2-3 mls whole blood in EDTA (lavender top tube); ship whole blood at room temperature by overnight express (FedEx, UPS, DHL); do NOT freeze whole blood.
    Amino Acid Analysis by HPLC: Either (A) 2-3 mls whole blood in EDTA (lavender top tube), or (B) >1 ml serum or plasma, or (C) Guthrie card (filter paper); ship by overnight express (FedEx, UPS, DHL); whole blood and Guthrie cards should be shipped at room temperature (do NOT freeze whole blood); serum or plasma should be frozen and shipped on dry ice.
    Organic Acid Analysis by GC/MS: >10 mls of urine; ship by overnight express (FedEx, UPS, DHL); urine should be frozen and shipped on dry ice.
 
    3) Payment: The Clinic for Special Children is non-profit and does not bill insurance companies. These unique molecular genetic tests are not provided by other laboratories. We offer these tests at reduced cost (versus comparable tests at other laboratories) to help physicians and families diagnose rare disorders. Costs associated with unpaid outside testing must be covered by the clinic and its uninsured patients. Due to the high volume of recent unpaid invoices, payment MUST be made in full when samples are shipped to our laboratory, either by check or money order. If requesting MSUD testing, payment must be made for the first gene (BCKDHA, $595) before testing will begin. If payment is not received with the sample or prior arrangements have not been made with our billing staff (Mim or Rebecca at 717-687-9407), the test will be delayed or refused.
 
    4) Consent Form: In addition to the Laboratory Requisition Form, all requests for Molecular Genetic Testing (mutation identification and targeted mutation detection) must be accompanied by a signed Consent Form (.pdf or .jpg format).
 
    5) Requisition Form: After receiving prior approval, complete the Laboratory Requisition Form (.pdf or .jpg format). All requests for laboratory testing must be accompanied by a FULLY completed requisition form.
 
    6) Documentation: In addition to the Laboratory Requisition Form, all requests for Mutation Identification must be accompanied by a clinical summary to assist in test interpretation.
 
    7) Shipping: Please contact the laboratory by phone at 1-717-687-9407 before shipping samples. Samples should be shipped by overnight express (for delivery Monday-Friday) to the following address:
 
Clinic for Special Children
Attn: Erik G. Puffenberger, Lab Director
535 Bunker Hill Road
Strasburg, PA 17579
 
Testing and charges:
Amino acid analysis: $50.00/sample.
Organic acid analysis: $100.00/sample.
Mutation identification (i.e. complete gene sequencing) as follows:
 
 
 
 
 
 
 
 
 
Targeted mutation detection (i.e. carrier and/or diagnostic testing for a specific mutation): $50.00/sample/mutation. Our current list of mutations may be found here.
 
CLIA ID: 39D0662473; PA Lab ID: 021547; EIN 23-2555373.