Sample Type

Whole Blood, Saliva or Buccal Swabs

OtoSCOPE Panel; Genetic Renal Panel; GJB2/GJB6 (Connexin 26/30); MLPA a la carte; Usher Panel; Aminoglycoside-Induced Hearing Loss Panel; OtoSCOPE, GJB2/GJB6 (Connexin 26/30) and Genetic Renal Panel Familial Variant Testing; PHASE Program; HEAR VUS Progra

Sample (SEND ONLY ONE OF THE FOLLOWING SAMPLE TYPES) : 

  • 5µg DNA suspended in ≥ 50µl elution buffer
    • minimum concentration 50ng/µl
    • A260/A280 1.8-2.0
  • 3-5 cc EDTA Whole Blood
    • room temperature
  • Saliva
    • DNA Genotek, ORAGene Discover, OGR-500
  • Buccal Swabs 
    • at least 4 swabs
    • DNA Genotek, OraCollect, OCD-100

Sample Stability: 

  • Whole Blood Sample Stability for DNA extraction
    • EDTA Whole Blood is stable for 7 days at room temperature and 4 months in the refrigerator
  • Saliva Collection Kits and Buccal Swabs Sample Stability
    • Per the manufacturer for samples collected following the instructions provided with kit/swabs: OGR-500 saliva collection kits are stable at room temperature for several years and OCD-100 buccal swabs stable up to 80 days.  Both of these kits can be shipped at room temperature.

Shipping:

  • Labeled with the sample type AND patient’s name, DOB, MRN and sex
  • Room temperature (DO NOT FREEZE)
  • Samples may be refrigerated if delivery is delayed
  • Shipping and receiving dock closed on weekends and holidays 
    • Deliveries accepted Monday - Friday 

Frozen Serum & EDTA Plasma

C3 Glomerulopathy Complement Panel; aHUS Complement-Mediated TMA Functional Panel; Complement Biomarker Panel

Sample:

  • 2 ml frozen EDTA plasma
  • 2 ml frozen serum

Sample Stability: 

  • Serum and EDTA plasma samples must be frozen to below -80°C immediately after separation from cells and shipped on dry ice. These samples remain viable for at least six months when stored at -80°C.

Shipping:

  • All serum and EDTA plasma samples MUST be processed and frozen down to -80°C immediately after collection
  • Labeled with the sample type AND patient’s name, DOB, MRN and sex
  • Sample type must be clearly labeled (either serum or EDTA plasma)
  • Cryovials should be put in zip lock bags and completely covered in dry ice to keep the sample frozen until it arrives in the lab
  • Shipped overnight on at least 5 lbs of dry ice
  • Shipping and receiving dock closed on weekends and holidays
    • Deliveries accepted Monday - Friday 

If samples arrive thawed they will be REJECTED.

Frozen EDTA Plasma

C3c level, FD level, FB level, Ba level, Bb level, C5 level, Properdin, Soluble C5b-9, FI level, FH level a la carte

Sample:

  • 1ml frozen EDTA plasma each test

Sample Stability: 

  • EDTA plasma samples must be frozen to below -80°C immediately after separation from cells and shipped on dry ice. These samples remain viable for at least six months when stored at -80°C.

Shipping:

  • All EDTA plasma samples MUST be processed and frozen down to -80°C immediately after collection
  • Labeled with the sample type AND patient’s name, DOB, MRN and sex
  • Cryovials should be put in zip lock bags and completely covered in dry ice to keep the sample frozen until it arrives in the lab
  • Shipped overnight on at least 5 lbs of dry ice
  • Shipping and receiving dock closed on weekends and holidays
    • Deliveries accepted Monday - Friday 

If samples arrive thawed they will be REJECTED.

Frozen Serum

Autoantibody Panel; Complement Activity Pathway Panel; and a la carte tests CH50, APFA, C3b Deposition, Fluid Phase Activity Assay, FHAA, FBAA, C3Nef, C5Nef, C4Nef, C3 level and C4 level

Sample:

Autoantibody Panel and Complement Activity Pathway Panel

  • 2 ml frozen serum 

A la carte tests: CH50, APFA, C3b Deposition Assay, Fluid Phase Activity Assay, FHAA, FBAA, C3Nef, C5Nef, C4Nef, C3 level and C4 level.

  • 1 ml frozen serum each test

Sample Stability: 

  • Serum samples must be frozen to below -80°C immediately after separation from cells and shipped on dry ice. These samples remain viable for at least six months when stored at -80°C.

Shipping:

  • All serum samples MUST be processed and frozen down to -80°C immediately after collection
  • Labeled with the sample type AND patient’s name, DOB, MRN and sex
  • Cryovials should be put in zip lock bags and completely covered in dry ice to keep the sample frozen until it arrives in the lab
  • Shipped overnight on at least 5 lbs of dry ice
  • Shipping and receiving dock closed on weekends and holidays
    • Deliveries accepted Monday - Friday 

If samples arrive thawed they will be REJECTED.

Frozen Citrated Plasma

Sample:

  • 1ml citrated plasma

Sample Stability: 

  • Citrated plasma samples must be frozen to below -80°C immediately after separation from cells and shipped on dry ice. These samples remain viable for at least six months when stored at -80°C.

Shipping:

  • All citrated plasma samples MUST be processed and frozen down to -80°C immediately after collection
  • Labeled with the sample type AND patient’s name, DOB, MRN and sex
  • Cryovials should be put in zip lock bags and completely covered in dry ice to keep the sample frozen until it arrives in the lab
  • Shipped overnight on at least 5 lbs of dry ice
  • Shipping and receiving dock closed on weekends and holidays 
    • Deliveries accepted Monday - Friday 

If samples arrive thawed they will be REJECTED.