• Home
• Collaborate With ARUP
  • Areas of Interest
  • Disease & Technology Expertise
  • Academic Collaborations
  • Industry Collaborations
  • ARUP Seminars
  • How to Start
• Educational Resources
  • Video Lectures
  • Short Topics
  • Case Reports
  • Medical Conferences
  • Published Articles & Citations
• Mutation Databases
  • ALPORT (COL4A5)
    • ALPORT Database
    • ALPORT Links
    • ALPORT Submissions
  • Biotinidase Deficiency (BTD)
    • BTD Database
    • BTD Links
    • BTD Submissions
  • Galactosemia (GALT)
    • GALT Database
    • GALT Links
    • GALT Submissions
  • HHT (ACVRL1 and ENG)
    • ACVRL1 Database
    • ENG Database
  • Juvenile Polyposis Syndrome (SMAD4)
    • SMAD4 Database
    • SMAD4 Links
    • SMAD4 Submissions
  • Legius Syndrome (SPRED1)
    • SPRED1 Database
    • SPRED1 Links
    • SPRED1 Submissions
  • MEN1 (Menin)
    • MEN1 Database
    • MEN1 Links
    • MEN1 Submissions
  • MEN2 (RET)
    • MEN2 Database
    • MEN2 Links
    • MEN2 Submissions
  • Primary Carnitine Deficiency (SLC22A5)
    • SLC22A5 Database
    • SLC22A5 Links
    • SLC22A5 Submissions
  • Pulmonary Arterial Hypertension (BMPR2)
    • BMPR2 Database
    • BMPR2 Links
    • BMPR2 Submissions
  • RASA1-Related Disorders
    • RASA1 Database
    • RASA1 Links
    • RASA1 Submissions

Exome/Genome Sequencing (for research use only)

To request a quote for exome or genome sequencing, please fill out the form below.
    (See Workflow and Pricing for additional details on services provided.)

Please note, bioinformatics analysis can either be included or requested as stand alone service.
Collaborations are welcome for gene discovery and interpretation.

---

Contact Information

* First Name

* Last Name

* Institution or
Laboratory

* Phone

* Email

---

Sample Information

* Brief Project Description:

Family Study? – Please select –   Yes No

   Please note: Pedigree and affected status may be required for appropriate bioinformatics analysis.

Sample Type? – Please select –   DNA Whole Blood (~3mL)

   Please note: A minimum of 3-5ug of input DNA required at a concentration of ≥ 100 ng/uL with an A₂₆₀/A₂₈₀ of 1.8 - 2.0.

Number of Samples?

Sanger confirmation needed? – Please select –   Not sure Yes No

   Please note: ARUP can also perform/report CLIA certified Sanger sequencing to confirm novel gene variants.

---

Service Information

*Sequencing? – Please select – Exome Sequencing Genome Sequencing Bioinformatics Only (see below)

*Bioinformatics? – Please select – Not sure Assemble sequence reads to FastQ file only Assemble FastQ file, Align to reference genome Alignment, Variant Calling and Annotation Collaboration - FastQ to Interpretation (see below))

Coverage? – Please select –   Not sure > 25x > 50x > 100x

   Please note: Represents coverage distribution across targeted regions. Actual coverage may vary.

Exome Capture? – Please select –   Not sure NimbleGen (Roche) SureSelect (Agilent)

   Please note: Default sequence reads are 2x100, paired ends.

Are you interested in collaboration for gene discovery and interpretation? – Please select –   Not sure Yes No

   Please note: Collaboration will be in conjunction with an ARUP medical director with expertise in your field of interest.

---

• © 2006 - 2013 ARUP LABORATORIES
• THE UNIVERSITY OF UTAH
• DISCLAIMER
• WEBMASTER