Patient Name:
UCS, Patient10
Referring Physician:
Specimen #:
61361714-06
Patient #:
60882892
DOB: 09/20/1987
Sex: Female
Lab ID:
Hospital ID:
Specimen Type: Peripheral Blood
Client #:
109224
Case #:
60821402
Date Collected: 04/29/2012
Date Received: 05/01/2012
109224 / 000000
Genzyme Client
Ichigaya Tokyu Building 9F
4-2-1 Kudan-Kita
Chiyoda-ku, TOKYO 102-0073
JAPAN
Ethnicity:
Caucasian
Indication:
Carrier Test / No Family History; Family history of cystic fibrosis - brother known carrier
Inheritest
℠
Carrier Screen
Disease
Gene
Result and Interpretation
Mucopolysaccharidosis Type I
IDUA
POSITIVE for one c.152G>A (p.G51D) mutation. This individual is
predicted to be a carrier. Genetic counseling is recommended. See
Additional Clinical Information.
Cystic Fibrosis
CFTR
Negative for the mutations analyzed. This individual's risk to be a carrier
is reduced from 1/2 (50%) to 1/15 (7%) based on these results, the
reported family history, and Caucasian ancestry.
All Other Diseases
Negative for the mutations analyzed. These results reduce, but do not
eliminate, the chance to be a carrier. See Carrier Screen Information
Table for disease-specific details.
Mucopolysaccharidosis Type I:
Mucopolysaccharidosis type I, also known as Hurler syndrome, is an autosomal recessive
disease with variable severity and age of onset. Symptoms of severe disease typically include coarsening of the facial features,
hepatosplenomegaly, skeletal dysplasia, corneal clouding, cardiac disease, and intellectual disability. Treatment is primarily
supportive although bone marrow/stem cell transplantation or enzyme replacement therapy may be available. (Clarke L,
PubMed ID:20301341) Genetic counseling is recommended to discuss the potential clinical and/or reproductive implications of
these results, as well as recommendations for testing family members and, when applicable, this individual's partner. If this
individual's reproductive partner is also a carrier of a mutation in this gene, then the risk for an affected fetus is 25%.
Unless otherwise noted, all interpretations are based on a negative family history and the absence of symptoms. These results
may need further interpretation depending on the clinical presentation.
ADDITIONAL CLINICAL INFORMATION:
COMMENTS:
This analysis provides carrier testing by analyzing 431 mutations associated with more than 90 diseases. Mutations are
selected for relatively high frequency in the general population or in specific ethnic populations; therefore, the clinical sensitivity
and specificity varies for each disease and for each ethnic group. This analysis does not rule out the presence of
disease-causing mutations in other regions of the genes analyzed or in other genes, and will not detect germline mosaicism.
Routine, targeted sequence analysis may identify other sequence variants as well as targeted mutations. Interpretations and
risk calculations, where applicable, are based on the ethnic information and clinical and family relationships provided, as well
as the current understanding of the molecular genetics of the conditions tested. References and additional disease information
are available at www.integratedgenetics.com/Inheritest.
If other carrier testing was ordered, such as spinal muscular atrophy SMN1 copy number analysis, fragile X syndrome analysis,
or Tay-Sachs disease enzyme analysis, results will be reported separately.
SAMPLE REPORT
City Hospital
123 City Avenue
Anywhere, ST 12345
00/00/1987
The standard of care for Tay-Sachs disease carrier detection in all ethnic groups is enzyme (hexosamindase A) analysis. For
maximum sensitivity and specificity, enzyme analysis should be performed in addition to DNA mutation analysis.
The standard of care for determining carrier status for sickle cell disease and other hemoglobinopathies is hemoglobin
electrophoresis and CBC.
METHOD/LIMITATIONS:
Isolated DNA is amplified by whole genome amplification. Mutation analysis is performed by array-based hybridization and allele-specific primer extension
using a custom Illumina Infinium(TM) array (IG v1.1). Confirmation of mutation identity is achieved by targeted DNA sequencing. Sequencing results are
reported using the numbering and nomenclature recommended by the Human Genome Variation Society (HGVS, http://www.hgvs.org/). False positive or
negative results may occur for reasons that include: genetic variants, blood transfusions, bone marrow transplantation, mislabeled specimens, or erroneous
representation of family relationships.
Inheritest
℠
Carrier Screen Information Table:
Disease (Gene)
Reference Sequence: Mutations
Population
Detection
Rate
Pre-test
carrier risk
(no family
history)
Post-test
carrier risk
(when result
negative)
Adenosine Deaminase Deficiency (ADA)
NM_000022.2: c.320T>C (p.L107P), c.632G>A (p.R211H), c.646G>A (p.G216R), c.956_960delAAGAG (p.E319fs), c.986C>T (p.A329V)
General
42%
1 in 289
1 in 497
Alpha-Mannosidosis (MAN2B1)
NM_000528.3: c.2248C>T (p.R750W)
Caucasian
23%
1 in 350
1 in 454
Andermann Syndrome (SLC12A6)
NM_133647.1: c.2436delG (p.T813fs)
French Canadian
99%
1 in 23
1 in 2200
Argininosuccinic Aciduria, also known as Argininosuccinic
Acid Lyase Deficiency (ASL)
NM_000048.3: c.346C>T (p.Q116*), c.446+1G>A, c.532G>A (p.V178M)
General
31%
1 in 132
1 in 190
Aspartylglucosaminuria (AGA)
NM_000027.3: c.214T>C (p.S72P), c.[482G>A; 488G>C] (p.[R161Q; C163S])Finnish
98%
1 in 81
1 in 4000
Ataxia-Telangiectasia (ATM)
NM_000051.3: c.103C>T (p.R35*), c.1564_1565delGA (p.E522fs),c.3245_3247delATCinsTGAT (p.H1082fs), c.3576G>A (p.S1135_K1192del58), c.5712dupA (p.S1905fs), c.5908C>T (p.Q1970*), c.5932G>T (p.E1978*), c.7517_7520delGAGA (p.R2506fs), c.7638_7646delTAGAATTTC (p.R2547_S2549delRIS)
Amish
99%
Unknown
Costa Rican
56%
1 in 100
1 in 226
General
16%
1 in 100
1 in 118
North African Jewish
97%
1 in 81
1 in 2667
Norwegian
55%
1 in 197
1 in 436
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
(SACS)
NM_014363.4: c.7504C>T (p.R2502*), c.8844delT (p.I2949fs)
French Canadian
96%
1 in 21
1 in 500
Bardet-Biedl Syndrome, BBS1-Related (BBS1)
NM_024649.4: c.1169T>G (p.M390R)
General
55%
1 in 390
1 in 865
Bardet-Biedl Syndrome, BBS10-Related (BBS10)
NM_024685.3: c.271dupT (p.C91fs)
General
45%
1 in 418
1 in 759
Beta Hemoglobinopathy, Beta Thalassemia (HBB)
NM_000518.4: 140C>T, 138C>T, 137C>G, 81A>G, 80T>A, c.-79A>G, c.-78A>C, c.-78A>G, c.1A>G (p.M1V), c.2T>G (p.M1R), c.17_18delCT (p.P6fs), c.20delA (p.E7fs), c.25_26delAA (p.K9fs), c.27dupG (p.S10fs), c.36delT (p.T13fs), c.45dupG (p.W16fs), c.46delT (p.W16fs), c.48G>A (p.W16*), c.51delC (p.K18fs), c.52A>T (p.K18*), c.59A>G (p.N20S), c.75T>A (p.=(no change at G25)), c.79G>T (p.E27*), c.85dupC (p.L29fs), c.90C>T (p.= (no change at G30)), c.92G>C (p.R31T), c.92+1G>A, c.92+1G>T, c.92+2T>A, c.92+2T>C, c.92+5G>C, c.92+6T>C, c.93-21G>A, c.112delT (p.W38fs), c.114G>A (p.W38*), c.118C>T (p.Q40*), c.126_129delCTTT (p.F42fs), c.135delC (p.F46fs), c.155delC (p.P52fs), c.203_204delTG (p.V68fs), c.217dupA (p.S73fs), c.271G>T (p.E91*), c.287dupA (p.L97fs), c.315+1G>A, 197C>T, 106C>G, 3C>A, 2A>C, 2A>G, 1G>T, c.383_385delAGG (p.Q128_A129delQAinsP), c.*113A>G, c.316-281_*209del619
African American
90%
1 in 75
1 in 741
East Asian
93%
1 in 50
1 in 700
Mediterranean
97%
1 in 20
1 in 634
Middle Eastern
84%
1 in 30
1 in 182
South Asian
95%
1 in 20
1 in 381
Southeast Asian
90%
1 in 30
1 in 291
Beta Hemoglobinopathy, Sickle Cell Disease (HBB)
NM_000518.4: c.20A>T (p.E7V)
African American
>99%
1 in 14
Negligible
Hispanic
>99%
1 in 183
Negligible
Patient Name: UCS, Patient10
Specimen #: 61361714-06
Patient #: 60882892
Inheritest
℠
Carrier Screen Information Table:
Disease (Gene)
Reference Sequence: Mutations
Population
Detection
Rate
Pre-test
carrier risk
(no family
history)
Post-test
carrier risk
(when result
negative)
Beta Hemoglobinopathy, Sickle Cell Disease (HBB)
NM_000518.4: c.20A>T (p.E7V)
Middle Eastern
>99%
1 in 360
Negligible
Native American
>99%
1 in 176
Negligible
Beta Hemoglobinopathies, Hemoglobins C, D, E, and O
(HBB)
NM_000518.4: c.19G>A (p.E7K), c.79G>A (p.E27K), c.364G>A (p.E122K), c.364G>C (p.E122Q)
African American
>99%
1 in 46
Negligible
Asian
>99%
1 in 119
Negligible
Asian Indian
>99%
1 in 68
Negligible
Middle Eastern
>99%
1 in 255
Negligible
Native American
>99%
1 in 292
Negligible
Southeast Asian
>99%
1 in 15
Negligible
Bloom Syndrome (BLM)
NM_000057.2: c.2207_2212del6insTAGATTC (p.Y736fs)
Ashkenazi Jewish
97%
1 in 134
1 in 4434
Canavan Disease (ASPA)
NM_000049.2: c.433-2A>G, c.693C>A (p.Y231*), c.854A>C (p.E285A), c.914C>A (p.A305E)
Ashkenazi Jewish
98%
1 in 55
1 in 2700
Caucasian
50%
Unknown
Cartilage-Hair Hypoplasia (RMRP)
NG_017041.1: r.71a>gAmish
91%
1 in 19
1 in 200
Finnish
92%
1 in 76
1 in 938
General
48%
Unknown
Citrullinemia Type I (ASS1)
NM_000050.4: c.421-2A>G, c.1168G>A (p.G390R)
General
20%
1 in 119
1 in 148
Japanese
49%
Unknown
Cobalamin C Disease (MMACHC)
NM_015506.2: c.271dupA (p.R91fs), c.331C>T (p.R111*), c.394C>T (p.R132*)
General
58%
Unknown
Congenital Disorder of Glycosylation Type 1a (PMM2)
NM_000303.2: c.338C>T (p.P113L), c.357C>A (p.F119L), c.422G>A (p.R141H), c.470T>C (p.F157S), c.691G>A (p.V231M)
Caucasian
70%
1 in 71*
1 in 234
Congenital Finnish Nephrosis: See Nephrotic Syndrome,
NPHS1-Related (NPHS1)
Cystic Fibrosis (CFTR)
NG_016465.1: c.54-5940_273+10250del21kb (p.S18fs), c.178G>T (p.E60*), c.223C>T (p.R75*), c.254G>A (p.G85E), c.262_263delTT (p.L88fs), c.273+1G>A, c.273+3A>C, c.274-1G>A, c.274G>T (p.E92*), c.313delA (p.I105fs), c.325_327delTATinsG (p.Y109fs), c.349C>T (p.R117C), c.350G>A (p.R117H), c.366T>A (p.Y122*), c.442delA (p.I148fs), c.489+1G>T, c.531delT (p.I177fs), c.532G>A (p.G178R), c.579+1G>T, c.579+5G>A, c.580-1G>T, c.617T>G (p.L206W), c.803delA (p.N268fs), c.805_806delAT (p.I269fs), c.935_937delTCT (p.F312del), c.948delT (p.F316fs), c.988G>T (p.G330*), c.1000C>T (p.R334W), c.1013C>T (p.T338I), c.1040G>A (p.R347H), c.1040G>C (p.R347P), c.1055G>A (p.R352Q), c.[1075C>A; 1079C>A] (p. [Q359K; T360K]), c.1090T>C (p.S364P), c.1364C>A (p.A455E), c.1438G>T (p.G480C), c.1477C>T (p.Q493*), c.1519_1521delATC (p.I507del), c.1521_1523delCTT (p.F508del), c.1545_1546delTA (p.Y515*), c.1558G>T (p.V520F), c.1572C>A (p.C524*), c.1585-1G>A, c.1624G>T (p.G542*), c.1646G>A (p.S549N), c.1647T>G (p.S549R ), c.1652G>A (p.G551D), c.1654C>T (p.Q552*), c.1657C>T (p.R553*), c.1675G>A (p.A559T), c.1679G>C (p.R560T), c.1680-1G>A, c.1721C>A (p.P574H), c.1766+1G>A, c.1766+5G>T, c.1820_1903del84 (p.M607_Q634del), c.1911delG (p.Q637fs), c.1923_1931del9insA (p.S641fs), c.1973_1985del13insAGAAA (p.R658fs), c.1976delA (p.N659fs), c.2051_2052delAAinsG (p.K684fs), c.2052delA (p.K684fs), c.2052dupA (p.Q685fs), c.2125C>T (p.R709*), c.2128A>T (p.K710*), c.2175dupA (p.E726fs), c.2290C>T (p.R764*), c.2657+5G>A, c.2668C>T (p.Q890*), c.2737_2738insG (p.Y913*), c.2988G>A (p.=(no change at Q996)), c.2988+1G>A, c.3039delC (p.Y1014fs), c.3067_3072delATAGTG (p.I1023_V1024del), c.3196C>T (p.R1066C), c.3266G>A (p.W1089*), c.3276C>A (p.Y1092*), c.3276C>G (p.Y1092*), c.3302T>A (p.M1101K), c.3454G>C (p.D1152H), c.3472C>T (p.R1158*), c.3484C>T (p.R1162*), c.3528delC (p.K1177fs), c.3536_3539delCCAA (p.T1179fs), c.3587C>G (p.S1196*), c.3612G>A (p.W1204*), c.3659delC (p.T1220fs), c.3712C>T (p.Q1238*), c.3717+12191C>T, c.3744delA (p.K1250fs), c.3752G>A (p.S1251N), c.3764C>A (p.S1255*), c.3773dupT (p.L1258fs), c.3846G>A
African American
81%
1 in 61
1 in 316
Ashkenazi Jewish
97%
1 in 24
1 in 767
Asian American
49-55%
1 in 94
<1 in 183
Caucasian
93%
1 in 25
1 in 343
Hispanic
77%
1 in 58
1 in 248
Patient Name: UCS, Patient10
Specimen #: 61361714-06
Patient #: 60882892
Inheritest
℠
Carrier Screen Information Table:
Disease (Gene)
Reference Sequence: Mutations
Population
Detection
Rate
Pre-test
carrier risk
(no family
history)
Post-test
carrier risk
(when result
negative)
Cystinosis (CTNS)
NM_004937.2: c.-39kb_848del57kb, c.198_218del21 (p.I67_P73del7), c.413G>A (p.W138*)
French Canadian
70%
1 in 39
1 in 127
General
61%
1 in 158
1 in 403
D-Bifunctional Protein Deficiency (HSD17B4)
NM_000414.3: c.46G>A (p.G16S), c.1369A>T (p.N457Y)
General
35%
Unknown
Dihydrolipoamide Dehydrogenase Deficiency (DLD)
NM_000108.3: c.104dupA (p.Y35*), c.685G>T (p.G229C)
Ashkenazi Jewish
>95%
1 in 107
<1 in 2121
Dihydropyrimidine Dehydrogenase Deficiency (DPYD)
NM_000110.3: c.1905+1G>A
Northern European
Caucasian
71%
Unknown
Ethylmalonic Encephalopathy (ETHE1)
NM_014297.3: c.487C>T (p.R163W), c.488G>A (p.R163Q), c.505+1G>T
Mediterranean/Arab
30%
Unknown
Familial Dysautonomia (IKBKAP)
NM_003640.3: c.2087G>C (p.R696P), c.2204+6T>C
Ashkenazi Jewish
>99%
1 in 31
<1 in 3000
Familial Hyperinsulinism, ABCC8-Related (ABCC8)
NM_000352.3: c.3989-9G>A, c.4160_4162delTCT (p.F1387del)
Ashkenazi Jewish
97%
1 in 52
1 in 1700
Familial Mediterranean Fever (MEFV)
NM_000243.2: c.2040G>A (p.M680I), c.2040G>C (p.M680I), c.2080A>G (p.M694V), c.2082G>A (p.M694I), c.2177T>C (p.V726A)
Arab
71%
1 in 5
1 in 14
Armenian
78%
1 in 5
1 in 19
Ashkenazi Jewish
69%
1 in 81^
1 in 259
North African Jewish
94%
1 in 7
1 in 100
Turkish
74%
1 in 5
1 in 16
Fanconi Anemia Group C (FANCC)
NM_000136.2: c.67delG (p.D23fs), c.456+4A>T
Ashkenazi Jewish
99%
1 in 100
1 in 9900
Galactosemia, GALT-Related (GALT)
NM_000155.2: c.[-1039_753del3162; 820+51_*789del2294ins12], c.253-2A>G, c.404C>T (p.S135L), c.413C>T (p.T138M), c.563A>G (p.Q188R), c.584T>C (p.L195P), c.626A>G (p.Y209C), c.855G>T (p.K285N)
African American
65%
1 in 78
1 in 221
Ashkenazi Jewish
88%
>1 in 127
>1 in 1050
Caucasian
81%
1 in 108
1 in 564
Gaucher Disease (GBA)
NM_001005741.2: c.84dupG (p.L29fs), c.115+1G>A, c.1226A>G (p.N409S), c.1297G>T (p.V433L), c.1342G>C (p.D448H), c.1448T>C (p.L483P), c.1604G>A (p.R535H)
Ashkenazi Jewish
98%
1 in 15
1 in 700
General
69%
Unknown
Glutaric Acidemia Type 1 (GCDH)
NM_000159.2: c.1204C>T (p.R402W), c.1262C>T (p.A421V)
German
Amish
94%
47%
1 in 158
1 in 9*
1 in 134
1 in 297
Glutathione Synthetase Deficiency (GSS)
NM_000178.2: c.-9+5G>A, c.129+1663A>G, c.847C>T (p.R283C)
General
30%
Unknown
Glycine Encephalopathy, GLDC-Related (GLDC)
NM_000170.2: c.1545G>C (p.R515S), c.1691G>T (p.S564I)
Finnish
70%
1 in 117
1 in 387
Glycogen Storage Disease Type Ia (G6PC)
NM_000151.2: c.79delC (p.Q27fs), c.247C>T (p.R83C), c.248G>A (p.R83H), c.379_380dupTA (p.Y128fs), c.562G>C (p.G188R), c.648G>T (p.=(no change at L216)), c.724C>T (p.Q242*), c.980_982delTCT (p.F327del), c.1039C>T (p.Q347*)
Ashkenazi Jewish
99%
1 in 64
1 in 6300
Caucasian
69%
1 in 177
1 in 568
Chinese
76%
1 in 177
1 in 734
Japanese
90%
1 in 177
1 in 1761
Glycogen Storage Disease Type Ib (SLC37A4)
NM_001164277.1: c.352T>C (p.W118R), c.1015G>T (p.G339C), c.1042_1043delCT (p.L348fs)Caucasian
46%
1 in 354
1 in 654
Japanese
42%
1 in 354
1 in 609
Glycogen Storage Disease Type II: See Pompe Disease
(GAA)
Glycogen Storage Disease Type IIIa (AGL)
NM_000642.2: c.1222C>T (p.R408*), c.1384delG (p.V462*), c.2309-1G>A, c.2590C>T (p.R864*), c.2681+1G>A, c.3682C>T (p.R1228*), c.3965delT (p.V1322fs), c.3980G>A (p.W1327*), c.4260-12A>G, c.4456delT (p.S1486fs)
Caucasian
40%
Unknown
Faroese
99%
1 in 30
1 in 2900
North African Jewish
99%
1 in 37
1 in 3600
Patient Name: UCS, Patient10
Specimen #: 61361714-06
Patient #: 60882892
Inheritest
℠
Carrier Screen Information Table:
Disease (Gene)
Reference Sequence: Mutations
Population
Detection
Rate
Pre-test
carrier risk
(no family
history)
Post-test
carrier risk
(when result
negative)
Glycogen Storage Disease Type IIIb (AGL)
NM_000642.2: c.16C>T (p.Q6*), c.18_19delGA (p.Q6fs)
Caucasian
99%
Unknown
GRACILE Syndrome (BCS1L)
NM_004328.4: c.232A>G (p.S78G)
Finnish
99%
1 in 110
1 in 10,900
Hereditary Fructose Intolerance (ALDOB)
NM_000035.3: c.448G>C (p.A150P), c.524C>A (p.A175D), c.1005C>G (p.N335K)
General
75%
1 in 71
1 in 281
HMG-CoA Lyase Deficiency (HMGCL)
NM_000191.2: c.109G>T (p.E37*), c.122G>A (p.R41Q)
Saudi Arabian
86%
Unknown
Spanish/Portuguese
85%
Unknown
Holocarboxylase Synthetase Deficiency (HLCS)
NM_000411.6: c.1522C>T (p.R508W), c.1648G>A (p.V550M)
General
38%
<1 in 158
<1 in 254
Homocystinuria, CBS-Related (CBS)
NM_000071.2: c.572C>T (p.T191M), c.833T>C (p.I278T), c.919G>A (p.G307S)General
26%
1 in 227
1 in 306
Irish
71%
1 in 127
1 in 435
Spanish
52%
1 in 250*
1 in 519
Hurler Syndrome: See Mucopolysaccharidosis Type I (IDUA)
Hyperoxaluria Type 1: See Primary Hyperoxaluria Type 1
(AGXT)
Hyperoxaluria Type 2: See Primary Hyperoxaluria Type 2
(GRHPR)
Joubert Syndrome 2 (TMEM216)
NM_001173990.1: c.218G>T (p.R73L)
Ashkenazi Jewish
99%
1 in 92
1 in 9100
Junctional Epidermolysis Bullosa, LAMA3-Related (LAMA3)
NM_000227.3: c.1981C>T (p.R661*)
Pakistani
(Herlitz
99%
type)
Unknown
Junctional Epidermolysis Bullosa, LAMB3-Related (LAMB3)
NM_000228.2: c.124C>T (p.R42*), c.727C>T (p.Q243*), c.958_1034dup77 (p.N345fs), c.1903C>T (p.R635*)General
55%
1 in 418
1 in 927
Italian
22%
<1 in 375
<1 in 480
Junctional Epidermolysis Bullosa, LAMC2-Related (LAMC2)
NM_005562.2: c.283C>T (p.R95*)
Italian
29%
<1 in 425
<1 in 598
Krabbe Disease (GALC)
NM_000153.2: c.[246A>G; 913A>G] (p.[I82M; I305V]), c.683_694del12insCTC (p.N228_S232del5insTP), c.857G>A (p.G286D), c.1161+6555_*9573del32kb, c.1472delA (p.K491fs), c.1586C>T (p.T529M), c.1700A>C (p.Y567S), c.2002A>C (p.T668P)
Caucasian
60%
1 in 158
1 in 393
Japanese
57%
Unknown
LCHAD Deficiency (HADHA)
NM_000182.4: c.1528G>C (p.E510Q)
General
Dutch
87%
71%
1 in 158*
1 in 138
1 in 1208
1 in 473
Leigh Syndrome, French-Canadian Type (LRPPRC)
NM_133259.3: c.1061C>T (p.A354V)
French Canadian
98%
1 in 23
1 in 1100
Maple Syrup Urine Disease Type 1A (BCKDHA)
NM_000709.3: c.1312T>A (p.Y438N)
General
11%
1 in 321
1 in 360
Mennonite
99%
1 in 13
1 in 1200
Maple Syrup Urine Disease Type 1B (BCKDHB)
NM_183050.2: c.548G>C (p.R183P), c.832G>A (p.G278S), c.1114G>T (p.E372*)Ashkenazi Jewish
95%
1 in 97
1 in 1921
Maple Syrup Urine Disease Type 3: See Dihydrolipoamide
Dehydrogenase Deficiency (DLD)
MCAD Deficiency (ACADM)
NM_000016.4: c.985A>G (p.K329E)
General
79%
1 in 63
1 in 296
Patient Name: UCS, Patient10
Specimen #: 61361714-06
Patient #: 60882892
Inheritest
℠
Carrier Screen Information Table:
Disease (Gene)
Reference Sequence: Mutations
Population
Detection
Rate
Pre-test
carrier risk
(no family
history)
Post-test
carrier risk
(when result
negative)
Metachromatic Leukodystrophy (ARSA)
NM_000487.5: c.302G>A (p.G101D), c.465+1G>A, c.542T>G (p.I181S), c.769G>C (p.D257H), c.1210+1G>A, c.1232C>T (p.T411I), c.1283C>T (p.P428L)
Caucasian
56%
1 in 141
1 in 319
Japanese
50%
1 in 132
1 in 263
Methylmalonic Acidemia, MMAA-Related (MMAA)
NM_172250.2: c.433C>T (p.R145*)
Caucasian
42%
1 in 300
1 in 516
Methylmalonic Acidemia, MMAB-Related (MMAB)
NM_052845.3: c.556C>T (p.R186W)
Caucasian
33%
1 in 435
1 in 648
Methylmalonic Acidemia, MUT-Related (MUT)
NM_000255.3: c.322C>T (p.R108C), c.655A>T (p.N219Y), c.1106G>A (p.R369H), c.2150G>T (p.G717V)
African American
35%
1 in 195
1 in 299
Caucasian
28%
1 in 195
1 in 270
Hispanic
41%
1 in 195
1 in 329
Methylmalonic Aciduria and Homocystinuria Type cblC: See
Cobalamin C Disease (MMACHC)
Mucolipidosis Type IV (MCOLN1)
NM_020533.2: c.-1015_788del6433, c.406-2A>G
Ashkenazi Jewish
96%
1 in 89
1 in 2200
Mucopolysaccharidosis Type I (IDUA)
NM_000203.3: c.152G>A (p.G51D), c.208C>T (p.Q70*), c.266G>A (p.R89Q), c.613_617dupTGCTC (p.E207fs), c.979G>C (p.A327P), c.1037T>G (p.L346R), c.1205G>A (p.W402*), c.1598C>G (p.P533R)
Caucasian
60%
1 in 158
1 in 393
Japanese
42%
1 in 158
1 in 271
Scandanavian
79%
1 in 158
1 in 748
Nemaline Myopathy, NEB-Related (NEB)
NM_004543.4: c.7432-2025_7536+372del2502bp (p.R2478_D2512del35)
Ashkenazi Jewish
>95%
1 in 168
<1 in 3341
Nephrotic Syndrome, NPHS1-Related (NPHS1)
NM_004646.3: c.121_122delCT (p.L41fs), c.2335-1G>A, c.3325C>T (p.R1109*), c.3478C>T (p.R1160*)
Finnish
94%
1 in 45
1 in 734
Maltese
99%
1 in 22
1 in 2100
Nephrotic Syndrome, NPHS2-Related (NPHS2)
NM_014625.2: c.353C>T (p.P118L), c.413G>A (p.R138Q), c.467dupT (p.L156fs), c.851C>T (p.A284V), c.868G>A (p.V290M), c.948delT (p.A317L)General
60%
Unknown
Neuronal Ceroid-Lipofuscinosis, CLN3-Related (CLN3)
NM_000086.2: c.461-280_677+382del966 (p.G154fs)
General
85%
1 in 230
1 in 1527
Neuronal Ceroid-Lipofuscinosis, CLN5-Related (CLN5)
NM_006493.2: c.225G>A (p.W75*), c.1175_1176delAT (p.Y392*)
Finnish
(Finnish
99%
variant)
1 in 115
1 in 11,400
Neuronal Ceroid-Lipofuscinosis, CLN8-Related (CLN8)
NM_018941.3: c.70C>G (p.R24G)
Finnish
(northern
99%
epilepsy
variant)
1 in 135
1 in 13,400
Neuronal Ceroid-Lipofuscinosis, PPT1-Related (PPT1)
NM_000310.3: c.223A>C (p.T75P), c.364A>T (p.R122W), c.451C>T (p.R151*)
Finnish
98%
1 in 67
1 in 3300
General
57%
1 in 480
1 in 1114
Neuronal Ceroid-Lipofuscinosis, TPP1-Related (TPP1)
NM_000391.3: c.509-1G>C, c.622C>T (p.R208*)
General
53%
1 in 250
1 in 530
Niemann-Pick Disease Type A (SMPD1)
NM_000543.4: c.911T>C (p.L304P), c.996delC (p.F333fs), c.1493G>T (p.R498L)
Ashkenazi Jewish
97%
1 in 116
1 in 3834
Niemann-Pick Disease Type B (SMPD1)
NM_000543.4: c.1828_1830delCGC (p.R610del)
Ashkenazi Jewish
Brazilian
50%
20%
Unknown
Unknown
North African
87%
Unknown
Niemann-Pick Disease Type C, NPC1-Related (NPC1)
NM_000271.4: c.3182T>C (p.I1061T)
General
20%
1 in 183
1 in 228
Niemann-Pick Disease Type C, NPC2-Related (NPC2)
NM_006432.3: c.58G>T (p.E20*)
General
56%
1 in 866
1 in 1966
Patient Name: UCS, Patient10
Specimen #: 61361714-06
Patient #: 60882892
Inheritest
℠
Carrier Screen Information Table:
Disease (Gene)
Reference Sequence: Mutations
Population
Detection
Rate
Pre-test
carrier risk
(no family
history)
Post-test
carrier risk
(when result
negative)
Nijmegen Breakage Syndrome (NBN)
NM_002485.4: c.657_661delACAAA (p.K219fs), c.1089C>A (p.Y363*)
Eastern European Slavic
99%
1 in 177
1 in 17,600
Non-Ketotic Hyperglycinemia, GLDC-Related: See Glycine
Encephalopathy, GLDC-Related (GLDC)
Phenylalanine Hydroxylase Deficiency, includes
Phenylketonuria (PAH)
NM_000277.1: c.117C>G (p.F39L), c.143T>C (p.L48S), c.194T>C (p.I65T), c.473G>A (p.R158Q), c.782G>A (p.R261Q), c.838G>A (p.E280K), c.842C>T (p.P281L), c.896T>G (p.F299C), c.1066-11G>A, c.1222C>T (p.R408W), c.1241A>G (p.Y414C), c.1315+1G>A
Caucasian
57%
1 in 50
1 in 114
Irish
69%
1 in 33
1 in 104
Turkish
55%
1 in 26
1 in 56
Polycystic Kidney Disease, Autosomal Recessive (PKHD1)
NM_138694.3: c.107C>T (p.T36M), c.1486C>T (p.R496*), c.5895dupA (p.L1966fs), c.5896dupC (p.L1966fs), c.8870T>C (p.I2957T), c.9689delA (p.D3230fs), c.10174C>T (p.Q3392*), c.10412T>G (p.V3471G)Finnish
79%
1 in 70
1 in 329
General
14%
1 in 70
1 in 81
Pompe Disease (GAA)
NM_000152.3: c.-32-13T>G, c.525delT (p.E176fs), c.1935C>A (p.D645E), c.2481+110_2646+39del538 (p.G828_N882del55), c.2560C>T (p.R854*)
African American
43%
1 in 60
1in 104
Chinese
80%
1 in 112
1 in 556
Dutch
64%
1 in 100
1 in 276
Primary Hyperoxaluria Type 1 (AGXT)
NM_000030.2: c.454T>A (p.F152I), c.508G>A (p.G170R), c.731T>C (p.I244T)
General
46%
1 in 289
1 in 534
Primary Hyperoxaluria Type 2 (GRHPR)
NM_012203.1: c.103delG (p.D35fs), c.404+3_404+6delAAGT
Asian
50%
Unknown
Caucasian
58%
Unknown
Propionic Acidemia, PCCA-Related (PCCA)
NM_000282.3: c.[1196G>A; 1676G>T] (p.[R399Q; W559L])
Japanese
17%
<1 in 65
<1 in 78
Propionic Acidemia, PCCB-Related (PCCB)
NM_000532.4: c.502G>A (p.E168K), c.1173dupT (p.V392fs),
c.1218_1231del14insTAGAGCACAGGA (p.G407fs), c.1228C>T (p.R410W), c.1283C>T (p.T428I)
Caucasian
32%
<1 in 112
<1 in 164
Japanese
57%
<1 in 65
<1 in 149
Latin American
77%
<1 in 112
<1 in 483
Spanish
68%
<1 in 112
<1 in 347
Rhizomelic Chondrodysplasia Punctata Type 1 (PEX7)
NM_000288.3: c.649G>A (p.G217R), c.653C>T (p.A218V), c.875T>A (p.L292*), c.903+1G>C
General
72%
1 in 158*
1 in 561
Salla Disease (SLC17A5)
NM_012434.4: c.115C>T (p.R39C)
Finnish
96%
1 in 200
1 in 4976
Sandhoff Disease (HEXB)
NM_000521.3: c.850C>T (p.R284*)
Italian
29%
Unknown
Sickle Cell Disease: See Beta Hemoglobinopathy, Sickle
Cell Disease (HBB)
Sjogren-Larsson Syndrome (ALDH3A2)
NM_000382.2: c.943C>T (p.P315S), c.1297_1298delGA (p.E433fs)
Caucasian
Swedish
36%
87%
1 in 250*
1 in 200
1 in 1531
1 in 390
Smith-Lemli-Opitz Syndrome (DHCR7)
NM_001360.2: c.278C>T (p.T93M), c.452G>A (p.W151*), c.506C>T (p.S169L), c.724C>T (p.R242C), c.725G>A (p.R242H), c.906C>G (p.F302L), c.964-1G>C, c.976G>T (p.V326L), c.1054C>T (p.R352W), c.1210C>T (p.R404C), c.1228G>A (p.G410S), c.1342G>A (p.E448K)
General
69%
1 in 71
1 in 226
Sulfate Transporter-Related Osteochondrodysplasias,
includes Achondrogenesis Type 1B, Atelosteogenesis Type
2, Diastrophic Dysplasia, and Recessive Multiple Epiphyseal
Dysplasia (SLC26A2)
NM_000112.3: c.-26+2T>C, c.532C>T (p.R178*), c.835C>T (p.R279W), c.1020_1022delTGT (p.V341del), c.1957T>A (p.C653S)
Finnish
96%
1 in 50
1 in 1226
General
70%
1 in 158
1 in 524
Patient Name: UCS, Patient10
Specimen #: 61361714-06
Patient #: 60882892
Inheritest
℠
Carrier Screen Information Table:
Disease (Gene)
Reference Sequence: Mutations
Population
Detection
Rate
Pre-test
carrier risk
(no family
history)
Post-test
carrier risk
(when result
negative)
Tay-Sachs Disease (HEXA)
NM_000520.4: c.-2564_253+5128del7945insG, c.1421+1G>C,
c.1274_1277dupTATC (p.Y427fs), c.1073+1G>A, c.805+1G>A, c.805G>A (p.G269S), c.745C>T (p.R249W), c.739C>T (p.R247W)
Ashkenazi Jewish
98%**
1 in 27**
1 in 1300
General
46%**
1 in 300**
1 in 554
US French Canadian
47%**
1 in 73**
1 in 136
Tyrosinemia Type 1 (FAH)
NM_000137.1: c.554-1G>T, c.698A>T (p.D233V), c.782C>T (p.P261L), c.786G>A (p.W262*), c.1062+5G>A
Ashkenazi Jewish
99%
1 in 158
1 in 15,700
Finnish
95%
1 in 122
1 in 2421
French Canadian
95%
1 in 56
1 in 1100
General
50%
1 in 158
1 in 315
Usher Syndrome Type IF (PCDH15)
NM_033056.3: c.733C>T (p.R245*)
Ashkenazi Jewish
>75%
1 in 147
<1 in 585
Usher Syndrome Type III (CLRN1)
NM_174878.2: c.144T>G (p.N48K)
Ashkenazi Jewish
98%
1 in 120
1 in 5951
Walker-Warburg Syndrome, FKTN-Related (FKTN)
NM_001079802.1: c.1167dupA (p.F390fs)
Ashkenazi Jewish
99%
1 in 79
1 in 7800
Wilson Disease (ATP7B)
NM_000053.3: c.2333G>T (p.R778L), c.3207C>A (p.H1069Q), c.3402delC (p.A1135fs)
Caucasian
36%
1 in 90
1 in 140
Chinese
39%
1 in 50
1 in 81
Japanese
18%
1 in 50
1 in 60
Zellweger Syndrome Spectrum, PEX1-Related, includes
Infantile Refsum Disease, Neonatal Adrenoleukodystrophy,
and Zellweger Syndrome (PEX1)
NM_000466.2: c.2097dupT (p.I700fs), c.2528G>A (p.G843D), c.2916delA (p.G973fs)
General
67%
1 in 134
1 in 404
* Incidence figures unavailable. Carrier frequency approximated from prevalence.
** Excludes pseudodeficiency alleles.
^ The carrier frequency in healthy Ashkenazi Jewish individuals has been reported to be as high as 1 in 5. However, based on
the observed incidence of disease, the carrier frequency corresponds to 1 in 81.
This test was developed and its performance characteristics determined by Esoterix Genetic Laboratories, LLC. It has not been cleared or approved by the Food and Drug Administration. The FDA has determined that such clearance or approval is not necessary. Results of this test are for investigational purposes only. The result should not be used as a diagnostic procedure without confirmation of the diagnosis by another medically diagnostic product or procedure.
