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Three genetic test profiles of the egg or sperm donor are provided. Each profile contains test
results from two donors. Pick just 1 profile, then you will evaluate the two donors for possible
genetic disorders that could be inherited by the fetus. After researching genetic disorder
possibilities, you will pick the better donor based on genetic profile alone. Please make sure to
include the following in your answer:
A brief description of the parents and the donors (3 points).
Do the parents or the donor’s biographical information impact the results in any way? How so?
Is this biographical information consistent with the genetic information? To address this
question, you should use your information and scientific literacy skills to determine accurate
detection rates for the donors.
Give 2 reasons why someone would utilize egg/sperm donation.
Evaluate the risk of each donor passing on a genetic disorder to the fetus. Use data/numbers in
your response (cite this!). (4 points).
Remember that only one parent is being tested in this scenario. Include what would happen if the
untested parent is included and is NOT a carrier. You should include a Punnett Square for every
reasonable scenario. (Include a key that tells your reader the abbreviations you used for alleles in
the Punnett Square)
What are the possible genetic disorders that could be passed to the fetus? (10 points). Compare
and contrast the two disorders, making sure to include:
A brief description of the disorder
Symptoms of disorders
Life expectancy/quality of life if one has the disorder.
Using the information collected above, pick a donor. Defend your response from the data you
collected. Include why the other donor is less suitable for donation (5 points).
3 references and in-text citations (3 points).
This assignment should be 1-2 pages paper using 3 outside references. Papers should be double
spaced, 1” margins and 12-point Times New Roman font.
Results Recipient
University Medical Center 639
Attn: Dr. Paul Smith
123 Main Street
Houston, TX 10231
Phone: (800) 555-1212
Fax: (800) 555-1212
NPI: 9318370465
Counsyl Test
The Counsyl test (Universal Panel) uses copy number analysis, sequencing, and targeted genotyping as described in the methods section on
page 4 to determine carrier status associated with 101 diseases. Please refer to page 5 for a complete list of diseases and genes included in
this panel.
Matt and Dan are a gay couple looking to start a family. Dan is going to be the sperm donor, and they are
looking for an egg donor. Dan is of Ashkenazi Jewish descent and doesn’t have a history of genetic disorders,
however has never received a genetic carrier screening.
DONOR 2
DONOR 1
Donor 1 is a healthy female of Northern European
descent.
Copyright 2013 Counsyl, Inc
All rights reserved.
Donor 2 is a healthy female of Ashkenazi Jewish
descent.
180 Kimball Way, South San Francisco, CA 94080
(888) COUNSYL | http://www.counsyl.com
Page 1 of 9
Version: 2.2.156
Methods and Limitations
Targeted genotyping: Targeted DNA mutation analysis is used to simultaneously determine the genotype of 398 variants associated with 100 diseases. The test
is not validated for detection of homozygous mutations, and although rare, asymptomatic individuals affected by the disease may not be genotyped accurately.
Sequencing: High-throughput sequencing is used to analyze 1427 exons in 98 genes, as well as selected intergenic and intronic regions. These regions are
sequenced to high coverage and the sequences are compared to standards and references of normal variation. Mutations may not be detected in areas of lower
sequence coverage. Triplet repeats and large deletions and duplications may not be detected. Small insertions and deletions may not be as accurately
determined as single nucleotide variants. Genes that have closely related pseudogenes are not well analyzed by this method.
High-throughput sequencing detects, on average, 94% of known clinically significant variants. Disease-specific detection rates and residual risks are reported as
“greater than (>)” and “less than (<)" the values for targeted genotyping, respectively. More precise values are not currently available, but may become available in the future. All variants that are a recognized cause of the disease will be reported. In addition, variants that have not previously been established as a recognized cause of disease may be identified. In these cases, only variants classified as "predicted" or "likely" pathogenic are reported. Predicted/likely pathogenic variants are described elsewhere in the report as "predicted/likely to have a negative impact on gene function". In general, predicted pathogenic variants are those which are predicted to be pathogenic based on the nature of the sequence change, while likely pathogenic variants are evaluated by reviewing reports of allele frequencies in cases and controls, functional studies, variant annotation and effect prediction, and segregation studies. Benign variants, variants of uncertain significance, and variants not directly associated with the intended disease phenotype are not reported. Copy number analysis: Targeted copy number analysis is used to determine the copy number of exon 7 of the SMN1 gene relative to other genes. Other mutations may interfere with this analysis. Some individuals with two copies of SMN1 are carriers with two SMN1 genes on one chromosome and a SMN1 deletion on the other chromosome. In addition, a small percentage of SMA cases are caused by nondeletion mutations in the SMN1 gene. Thus, a test result of two SMN1 copies significantly reduces the risk of being a carrier; however, there is still a residual risk of being a carrier and subsequently a small risk of future affected offspring for individuals with two or more SMN1 gene copies. Some SMA cases arise as the result of de novo mutation events which will not be detected by carrier testing. Limitations: In an unknown number of cases, nearby genetic variants may interfere with mutation detection. Other possible sources of diagnostic error include sample mix-up, trace contamination, bone marrow transplantation, blood transfusions and technical errors. The Counsyl test does not fully address all inherited forms of intellectual disability, birth defects and genetic disease. A family history of any of these conditions may warrant additional evaluation. Furthermore, not all mutations will be identified in the genes analyzed and additional testing may be beneficial for some patients. For example, individuals of African, Southeast Asian, and Mediterranean ancestry are at increased risk for being carriers for hemoglobinopathies, which can be identified by CBC and hemoglobin electrophoresis or HPLC (ACOG Practice Bulletin No. 78. Obstet Gynecol 2007;109:229-37) and additional Tay-Sachs disease testing can be performed using a biochemical assay (Gross et al. Genet Med 2008:10(1):54-56). This test was developed and its performance characteristics determined by Counsyl, Inc. It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA does not require this test to go through premarket review. This test is used for clinical purposes. It should not be regarded as investigational or for research. This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform highcomplexity clinical testing. These results are adjunctive to the ordering physician's workup. Literature citations validating reported variants are available upon request. CLIA Number: #05D1102604. Lab Director: H. Peter Kang, MD Copyright 2013 Counsyl, Inc All rights reserved. 180 Kimball Way, South San Francisco, CA 94080 (888) COUNSYL | http://www.counsyl.com Page 4 of 9 Version: 2.2.156 Diseases Tested ABCC8-Related Hyperinsulinism - Gene: ABCC8. Variants (3): F1388del, V187D, 3992-9G>A. Exons: NM_000352:1-38. Detection rates: Ashkenazi Jewish > 90%, Northern European > 10%.
Achromatopsia – Gene: CNGB3. Variants (3): R403Q, 819_826del8, T383fs. Exons: NM_019098:1-18. Detection rates: Ashkenazi Jewish > 62%, Northern European > 62%.
Alkaptonuria – Gene: HGD. Variants (11): G161R, G270R, P230S, S47L, V300G, M368V, IVS1-1G>A, IVS5+1G>A, G152fs, R58fs, 1111_1112insC. Exons: NM_000187:1-14. Detection rates:
Ashkenazi Jewish > 80%, Northern European > 80%.
Alpha-1 Antitrypsin Deficiency – Gene: SERPINA1. Variant (1): Z allele. Exons: NM_000295:1-4. Detection rates: Ashkenazi Jewish > 95%, Northern European > 95%.
Alpha-Mannosidosis – Gene: MAN2B1. Variant (1): R750W. Exons: NM_000528:1-8,10-24. Detection rates: Ashkenazi Jewish > 32%, Northern European > 32%.
Andermann Syndrome – Gene: SLC12A6. Variants (2): Thr813fsX813, R1011X. Exons: NM_133647:1-25. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
ARSACS – Gene: SACS. Variants (2): 6594delT, 5254C>T. Exons: NM_014363:1-7,9. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Aspartylglycosaminuria – Gene: AGA. Variant (1): C163S. Exons: NM_000027:1-9. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Ataxia With Vitamin E Deficiency – Gene: TTPA. Variant (1): 744delA. Exons: NM_000370:1-5. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Ataxia-Telangiectasia – Gene: ATM. Variants (8): R35X, Q1970X, 7517del4, 5762ins137, 2546_2548del, 3245ATC>TGAT, K1192K, E1978X. Exons: NM_000051:1-63. Detection rates:
Ashkenazi Jewish > 65%, Northern European > 65%.
Autosomal Recessive Polycystic Kidney Disease – Gene: PKHD1. Variants (4): Leu1965fs, T36M, R496X, V3471G. Exons: NM_138694:1-66. Detection rates: Ashkenazi Jewish > 18%,
Northern European > 18%.
Bardet-Biedl Syndrome, BBS1-Related – Gene: BBS1. Variant (1): M390R. Exons: NM_024649:1-17. Detection rates: Ashkenazi Jewish > 79%, Northern European > 79%.
Bardet-Biedl Syndrome, BBS10-Related – Gene: BBS10. Variant (1): C91fs. Exons: NM_024685:1-2. Detection rates: Ashkenazi Jewish > 46%, Northern European > 46%.
Biotinidase Deficiency – Gene: BTD. Variants (4): G98:d7i3, D252G, Q456H, R538C. Exons: NM_000060:1-4. Detection rates: Ashkenazi Jewish > 45%, Northern European > 45%.
Bloom Syndrome – Gene: BLM. Variant (1): 2281del6ins7. Exons: NM_000057:2-22. Detection rates: Ashkenazi Jewish > 99%, Northern European > 10%.
Canavan Disease – Gene: ASPA. Variants (4): E285A, Y231X, A305E, IVS2-2A>G. Exons: NM_000049:1-6. Detection rates: Ashkenazi Jewish > 98%, Northern European > 53%.
Carnitine Palmitoyltransferase IA Deficiency – Gene: CPT1A. Variant (1): G710E. Exons: NM_001876:1-18. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Carnitine Palmitoyltransferase II Deficiency – Gene: CPT2. Variants (3): Q413fs, S113L, R124X. Exons: NM_000098:1-5. Detection rates: Ashkenazi Jewish > 80%, Northern European >
80%.
Cartilage-Hair Hypoplasia – Gene: RMRP. Variant (1): g.70A>G. Exon: NR_003051:1. Detection rates: Ashkenazi Jewish > 48%, Northern European > 48%.
Choroideremia – Gene: CHM. Variant (1): IVS13+2dupT. Exons: NM_000390:1-15. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Citrullinemia Type 1 – Gene: ASS1. Variants (2): IVS6-2A>G, G390R. Exons: NM_000050:3-16. Detection rates: Ashkenazi Jewish > 20%, Northern European > 20%.
CLN3-Related Neuronal Ceroid Lipofuscinosis – Gene: CLN3. Variant (1): 461_677del. Exons: NM_001042432:1-15. Detection rates: Ashkenazi Jewish > 96%, Northern European > 96%.
CLN5-Related Neuronal Ceroid Lipofuscinosis – Gene: CLN5. Variant (1): 2467AT. Exons: NM_006493:1-4. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Cohen Syndrome – Gene: VPS13B. Variant (1): 3348_3349delCT. Exons: NM_017890:2-62. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Congenital Disorder of Glycosylation Type Ia – Gene: PMM2. Variants (4): V231M, F119L, R141H, P113L. Exons: NM_000303:1-8. Detection rates: Ashkenazi Jewish > 72%, Northern
European > 72%.
Congenital Disorder of Glycosylation Type Ib – Gene: MPI. Variant (1): R295H. Exons: NM_002435:1-8. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Congenital Finnish Nephrosis – Gene: NPHS1. Variants (2): 121_122del, R1109X. Exons: NM_004646:1,3-4,7-28. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Costeff Optic Atrophy Syndrome – Gene: OPA3. Variant (1): 143-1G>C. Exons: NM_025136:1-2. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Cystic Fibrosis – Gene: CFTR. Variants (99): G85E, R117H, R334W, R347P, A455E, G542X, G551D, R553X, R560T, R1162X, W1282X, N1303K, F508del, I507del, 2184delA, 3659delC, 621+1G>T,
711+1G>T, 1717-1G>A, 1898+1G>A, 2789+5G>A, 3120+1G>A, 3849+10kbC>T, E60X, R75X, E92X, Y122X, G178R, R347H, Q493X, V520F, S549N, P574H, M1101K, D1152H, 2143delT, 394delTT,
444delA, 1078delT, 3876delA, 3905insT, 1812-1G>A, 3272-26A>G, 2183AA>G, S549R(A>C), R117C, L206W, G330X, T338I, R352Q, S364P, G480C, C524X, S549R(T>G), Q552X, A559T, G622D,
R709X, K710X, R764X, Q890X, R1066C, W1089X, Y1092X, R1158X, S1196X, W1204X(c.3611G>A), Q1238X, S1251N, S1255X, 3199del6, 574delA, 663delT, 935delA, 936delTA, 1677delTA,
1949del84, 2043delG, 2055del9>A, 2108delA, 3171delC, 3667del4, 3791delC, 1288insTA, 2184insA, 2307insA, 2869insG, 296+12T>C, 405+1G>A, 405+3A>C, 406-1G>A, 711+5G>A, 712-1G>T,
1898+1G>T, 1898+5G>T, 3120G>A, 457TAT>G, 3849+4A>G, Q359K/T360K. Exons: NM_000492:1-27. Detection rates: Ashkenazi Jewish > 97%, Northern European > 91%.
Cystinosis – Gene: CTNS. Variants (4): 57 kb deletion, 537del21, W138X, L158P. Exons: NM_004937:1,3-12. Detection rates: Ashkenazi Jewish > 67%, Northern European > 67%.
D-Bifunctional Protein Deficiency – Gene: HSD17B4. Variants (2): G16S, N457Y. Exons: NM_000414:1-24. Detection rates: Ashkenazi Jewish > 35%, Northern European > 35%.
Factor XI Deficiency – Gene: F11. Variants (4): E117X, F283L, IVS14+1G>A, IVS14del14. Exons: NM_000128:1-15. Detection rates: Ashkenazi Jewish > 97%, Northern European > 10%.
Familial Dysautonomia – Gene: IKBKAP. Variants (2): IVS20+6T>C, R696P. Exons: NM_003640:12,18-19. Detection rates: Ashkenazi Jewish > 99%, Northern European > 10%.
Familial Mediterranean Fever – Gene: MEFV. Variants (4): M694V, V726A, M680I, M694I. Exons: NM_000243:1-10. Detection rates: Ashkenazi Jewish > 75%, Northern European > 10%.
Fanconi Anemia Type C – Gene: FANCC. Variants (3): IVS4+4A>T, 322delG, R548X. Exons: NM_000136:1-14. Detection rates: Ashkenazi Jewish > 99%, Northern European > 54%.
Galactosemia – Gene: GALT. Variants (8): S135L, Q188R, F171S, L195P, K285N, IVS2-2A>G, T138M, Y209C. Exons: NM_000155:1-11. Detection rates: Ashkenazi Jewish > 80%, Northern
European > 80%.
Gaucher Disease (targeted genotyping only) – Gene: GBA. Variants (10): N370S, L444P, 84GG, IVS2+1G>A, V394L, R496H, D409H, D409V, R463C, R463H. Detection rates: Ashkenazi
Jewish 95%, Northern European 60%.
GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness – Gene: GJB2. Variants (7): 35delG, 167delT, 235delC, E120del, W24X, W77R, L90P. Exons: NM_004004:1-2. Detection
rates: Ashkenazi Jewish > 84%, Northern European > 79%.
Glutaric Acidemia Type 1 – Gene: GCDH. Variant (1): R402W. Exons: NM_000159:2-12. Detection rates: Ashkenazi Jewish > 40%, Northern European > 40%.
Glycogen Storage Disease Type Ia – Gene: G6PC. Variants (7): R83C, Q347X, Q27fsdelC, 459insTA, R83H, G188R, Q242X. Exons: NM_000151:1-5. Detection rates: Ashkenazi Jewish > 99%,
Northern European > 61%.
Glycogen Storage Disease Type Ib – Gene: SLC37A4. Variants (2): 1211delCT, G339C. Exons: NM_001164277:1-9. Detection rates: Ashkenazi Jewish > 46%, Northern European > 46%.
Glycogen Storage Disease Type III – Gene: AGL. Variants (3): 1484delT, Q6X, 17delAG. Exons: NM_000642:2-34. Detection rates: Ashkenazi Jewish > 45%, Northern European > 45%.
Glycogen Storage Disease Type V – Gene: PYGM. Variants (4): R49X, G204S, 708/709del, W797R. Exons: NM_005609:1-20. Detection rates: Ashkenazi Jewish > 80%, Northern European >
80%.
GRACILE Syndrome – Gene: BCS1L. Variant (1): S78G. Exons: NM_004328:3-9. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Hb Beta Chain-Related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease) – Gene: HBB. Variants (28): Hb S, K17X, Q39X, Phe41fs, Ser9fs, IVS-II-654, IVS-II-745,
IVS-II-850, IVS-I-6, IVS-I-110, IVS-I-5, IVS-I-1(G>A), -88C>T, -28A>G, -29A>G, Lys8fs, Phe71fs, IVS-II-849(A>C), IVS-II-849(A>G), Gly24 T>A, -87C>G, Hb C, W15X, Gly16fs, Glu6fs, Hb E, Hb DPunjab, Hb O-Arab. Exons: NM_000518:1-3. Detection rates: Ashkenazi Jewish > 83%, Northern European > 83%.
Hereditary Fructose Intolerance – Gene: ALDOB. Variants (3): A149P, N334K, A174D. Exons: NM_000035:1-8. Detection rates: Ashkenazi Jewish > 75%, Northern European > 75%.
Hereditary Thymine-Uraciluria – Gene: DPYD. Variant (1): IVS14+1G>A. Exons: NM_000110:1-23. Detection rates: Ashkenazi Jewish > 52%, Northern European > 52%.
Copyright 2013 Counsyl, Inc
All rights reserved.
180 Kimball Way, South San Francisco, CA 94080
(888) COUNSYL | http://www.counsyl.com
Page 5 of 9
Version: 2.2.156
Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related – Gene: LAMA3. Variant (1): R650X. Exons: NM_000227:1-16,18-38. Detection rates: Ashkenazi Jewish > 10%, Northern
European > 10%.
Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related – Gene: LAMB3. Variants (3): R42X, Q243X, R635X. Exons: NM_000228:1-22. Detection rates: Ashkenazi Jewish > 48%,
Northern European > 48%.
Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related – Gene: LAMC2. Variant (1): R95X. Exons: NM_005562:1-23. Detection rates: Ashkenazi Jewish > 10%, Northern European >
10%.
Hexosaminidase A Deficiency (Including Tay-Sachs Disease) – Gene: HEXA. Variants (9): 1278insTATC, IVS12+1G>C, G269S, IVS9+1G>A, R178H, IVS7+1G>A, 7.6kb del, G250D, R170W.
Exons: NM_000520:1-14. Detection rates: Ashkenazi Jewish > 92%, Northern European > 23%.
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency – Gene: CBS. Variant (1): G307S. Exons: NM_000071:1-15. Detection rates: Ashkenazi Jewish > 14%, Northern
European > 14%.
Hurler Syndrome (targeted genotyping only) – Gene: IDUA. Variants (2): W402X, Q70X. Detection rates: Ashkenazi Jewish 67%, Northern European 67%.
Hypophosphatasia, Autosomal Recessive – Gene: ALPL. Variants (4): 1559delT, F310L, D361V, E174K. Exons: NM_000478:1-12. Detection rates: Ashkenazi Jewish > 30%, Northern
European > 30%.
Inclusion Body Myopathy 2 – Gene: GNE. Variants (2): M712T, V572L. Exons: NM_005476:1-11. Detection rates: Ashkenazi Jewish > 10%, Northern European > 10%.
Isovaleric Acidemia – Gene: IVD. Variant (1): A311V. Exons: NM_002225:1-12. Detection rates: Ashkenazi Jewish > 47%, Northern European > 47%.
Joubert Syndrome 2 – Gene: TMEM216. Variant (1): 35G>T. Exons: NM_001173990:1-5. Detection rates: Ashkenazi Jewish > 99%, Northern European > 10%.
Krabbe Disease – Gene: GALC. Variants (2): Ex11-17del, T513M. Exons: NM_000153:1-16. Detection rates: Ashkenazi Jewish > 58%, Northern European > 58%.
Limb-Girdle Muscular Dystrophy Type 2D – Gene: SGCA. Variant (1): R77C. Exons: NM_000023:1-9. Detection rates: Ashkenazi Jewish > 32%, Northern European > 32%.
Limb-Girdle Muscular Dystrophy Type 2E – Gene: SGCB. Variant (1): S114F. Exons: NM_000232:1-5. Detection rates: Ashkenazi Jewish > 12%, Northern European > 12%.
Lipoamide Dehydrogenase Deficiency – Gene: DLD. Variants (2): 105insA, G229C. Exons: NM_000108:1-14. Detection rates: Ashkenazi Jewish > 99%, Northern European > 10%.
Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency – Gene: HADHA. Variant (1): E474Q. Exons: NM_000182:1-20. Detection rates: Ashkenazi Jewish > 87%, Northern European >
87%.
Maple Syrup Urine Disease Type 1B – Gene: BCKDHB. Variants (3): R183P, G278S, E372X. Exons: NM_183050:1-10. Detection rates: Ashkenazi Jewish > 99%, Northern European > 10%.
Medium Chain Acyl-CoA Dehydrogenase Deficiency – Gene: A …
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