*** Example Report ***
ARUP Laboratories
500 Chipeta Way- Salt Lake City, UT 84108
(800) 522-2787 - www.aruplab.com
Sherrie L. Perkins, MD, Laboratory Director
Procedure
Retinitis Pigmentosa Del/Dup Specimen
Retinitis Pigmentosa Del/Dup Interp
EER Retinitis Pigmentosa Del/Dup
Result
Whole Blood
See Note f
See Note
Patient Age/Gender: 5 years Male
Printed: 25-Sep-12 13:32:49
Units
Ref Interval
Access ion
Collec ted Rec e ived
12 - 262 - 100106 18 - Sep- 12
11:29:00
12-262-100106 18 - Sep- 12
11 : 29 : 00
12 - 262 - 100106 18 - Sep- 12
11 : 29 : 00
18 - Sep- 12
11 : 31:00
18 - Sep- 12
11 : 31 : 00
18 - Sep-1 2
11 : 31 : 00
Verified
21 - Sep- 12
13 : 46:29
21 - Sep-12
13:46:29
21 - Sep- 12
13:46 : 29
* = Abnormal, # = Corrected, C = Critical, f = Footnote, H = High, L = Low, t = Interpretive Text,@= Reference Lab
Chart ID: 4102401
Page 1 of3
*** Example Report ***
ARUP Laboratories
500 Chipeta Way- Salt Lake City, UT 84108
(800) 522-2787 - www.aruplab.com
Sherrie L. Perkins, MD, Laboratory Director
18-Sep-12 11 : 29:00
Patient Age/Gender: 5 years Male
Printed: 25-Sep-12 13 :32:49
Retinitis Pigmentosa Del/Dup Interp :
Section 79-1 of New York State Civil Rights Law requires informed consent be obtained from all patients (or
their legal guardians) prior to pursuing any diagnostic genetic testing or testing to assess carrier status.
These forms must be kept on file by the ordering physician . Biochemical and DNA testing patient consent forms
can be accessed from ARUP ' s web site : www . aruplab . com .
Reason for referral : Patient symptoms listed here .
Result: No pathogenic mutations were detected.
Interpretation :
No pathogenic deletions or duplications were detected using a custom designed Comparative Genomic Hybridization
(CGH) array covering 53 genes associated with retinitis pigmentosa (RP)/Leber congenital amaurosis (LCA) .
Recommendations :
This test does not detect all mutations associated with RP/LCA. Consideration should be given to testing for
sequence variations of the 53 genes associated with RP/LCA (Retinitis Pigmentosa/Leber Congenital Amaurosis
Sequencing , 53 Genes ; ARUP test code 2007091). Medical screening and management should rely on clinical findings
and family history . Genetic consultation is recommended.
Reference Genome : Human genome build 19 (Hg 19) .
This result has been reviewed and approved by Pinar Bayrak- Toydemir , M.D. , Ph.D.
Background Information for Retinitis Pigmentosa (RP) Sequencing and Dele tion/Dupli cat ion:
Characteristics : Retinitis pigmentosa (RP) is a collection of inherited irregularities that can affect the
photoreceptors (rods and cones) and retinal pigment epithelium leading to continuous visual deterioration.
Patients with RP typically experience "night blindness" first, followed by a narrowing of the peripheral vision
field. Ultimately the disease progresses t o a complete loss of central vision . Symptoms may occur in childhood
but severe vision problems do not usually develop until early adulthood.
Leber Congenital Amaurosis (LCA) is a
severe retinal dystrophy usually observed in the first year of life . Poor vision is o ften accompanied by
keratoconus , nystagmus, and photophobia . In later childhood patients with LCA may develop a pigmentary
retinopathy , similar to that seen in RP .
Incidence :
RP : 1 in 3,500 - 4 , 000
LCA : 1 in 33 , 000 - 50,000
Inheritance : Variable : RP - autosomal dominant , autosomal recessive or X- linked recessive.
LCA - autosomal recessive or rarely autosomal dominant
Penetrance : Var iable; dependent on the gene involved .
Cause : Pathogenic mutations in genes associated with the development and function of the retina .
Clinical Sensitivity: Unknown .
Genes Tested :
RP: PRPF3, RHO, RDS, RP9, RPl, ROMl , NRL, PRPFS , CA4, FSCN2 , PRPF31, GUCAlB, SEMA4A, TOPORS, BESTl, KLHL7 ,
SNRNP200, ABCA4 , CERKL , CNGAl, CNGBl , EYS , MERTK , NR2E3, PDE6A, PDE6B , PROMl, RGR , SAG , TTCS, USH2A, RP2 , PRCD,
RPGR , DHDDS, RLBPl, IDH3B, C20RF71 , CDHRl
LCA: CEP290 , LCA5, RD3 , RDH12 , GUCY2D, RPGRIPl , SPATA7
Both RP and LCA : TULPl, LRAT , AIPLl, CRBl, CRX, IMPDHl, RPE65
Methodology : Deletion/duplication analysis by the tiled custom designed Comparative Genomic Hybridization (CGH)
array.
Analytical Sensitivity : >96 %
Clinical Sensitivity : RP - unknown; LCA - 40 %- 50 %
Limitations: Single base pair substitutions , small deletion/duplications , regulatory region mutations, and deep
intronic mutations will not be detected. Deletion/duplications breakpoints will not be determined . Mutations in
genes not tested for by this assay will not be detected . Copy number variants smaller than one kb will not be
detected by deletion/duplication analysis .
18 - Sep - 12 11:29:00
Retinitis Pigmentosa Del/Dup Interp :
*=Abnormal,#= Corrected, C = Critical, f= Footnote, H = High, L =Low, t =Interpretive Text,@= Reference Lab
ChartiD: 4102401
Page 2 of3
ARUP Laboratories
500 Chipeta Way- Salt Lake City, UT 84108
(800) 522-2787 - www.aruplab.com
Sherrie L. Perkins, MD, Laboratory Director
*** Example Report ***
Patient Age/Gender: 5 years Male
Printed: 25-Sep-1 2 13 :32:49
INTERPRETIVE INFORMATION : Retinitis Pigmentosa Del/Dup , 53 Genes
The performance characteristics of this test were validated by ARUP Laboratories . The
U. S. Food and Drug Administration (FDA) has not approved or cleared this test . However ,
FDA approval or clearance is currently not required for clinical use of this test . The
results are not intended to be used as the sole means for clinical diagnosis or patient
management decisions . ARUP is authorized under Clinical Laboratory Improvement Amendments
(CLIA) and by all states to perform high - complexity testing .
Counseling and informed consent are recommended for genetic testing .
available online at www . aruplab . com .
Consent forms are
* = Abnormal,#= Corrected, C = Critical, f =Footnote, H = High, L = Low, t = Interpretive Text,@= Reference Lab
Chart ID: 4102401
Page 3 of3