What is KaryoSeq Test?

KaryoSeq is a genetic test that utilizes low pass Whole Genome Sequencing for detection of Aneuploidies of all chromosomes and Copy Number Variations (deletions and duplications) >1 Megabase.

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Prevalence

A woman’s risk of having a pregnancy with certain
chromosomal abnormalities increase with age.

*Source – Combined prevalence using higher end of published ranges from Gross et al. Prenatal Diagnosis 2011; 39, 259-266;

The Risk of having a Baby with Down Syndrome¹

26 years old woman
Risk: 1 in 1300

36 years old woman
Risk: 1 in 270

The risk factor increase by almost

However, the incidence of microdeletions is independent of maternal age. In younger women,
the risk for a clinically signiﬁcant microdeletions exceeds the risk for Down Syndrone.

Why do you need this test?

This is a cost-effective test for identifying aneuploidies of any chromosome as well as copy number variations above 1 Mb.

Applicable for Conditions like:

Any situation that calls for conﬁrmation of a suspected aneuploidy such as trisomy 21, trisomy 18, trisomy 13, Monosomy X or other situations where a possible deletion or duplication is suspected, both in prenatal and postnatal cases.

When do you need to get tested?

Prenatal

High risk on maternal serum screening, abnormal ultrasound, family history of chromosomal abnormality, any structural abnormality, miscarriage (products of conception)

Post Natal

Patients with multiple congenital anomalies, autism/autism spectrum disorders (ASDs), and suspected chromosomal imbalances, including micro-deletion syndromes, require specialized care.

Validation

The validation process involved comparison of the CMA results with KaryoSeq.

Sample Size

10 normal
138 abnormal

DNA Sample Type

Amniotic Fluid
Chorionic villus biopsy
Product of conception
Direct fetal DNA
Peripheral blood DNA

Aberrations Identiﬁed

Whole chromosome aneuploidies
CNVs

Concordance

100% concordance>1Mb CNVs

Here are some CNVs that have been identiﬁed

Sl. No.	Sample Type	Microarray detected CNV’s	Size (Mb)	KaryoSeq Detected CNV’s	Size (Mb)	Concordance (Microarray vs KaryoSeq)
1	CVS	arr[GRCh38] (18)x3 [Edwards syndrome]	80.1	Seq[GRCh37]18p11.32 - q23(0_8,077,248)x3	78	✓
2	CVS	arr[GRCh38] (21)x3 [Down syndrome]	33.1	Seq[GRCh37]21p13-q22.3(0-48,129,895)x3	78	✓
3	POC	arr[GRCh38] (12)x3	133.5	Seq[GRCh37]12p13.33 - q24.33(0-133,851,895)x3	133.8	✓
4	Peripheral Blood	arr[GRCh38]11p15.5q23.3(230,616_116,744,147)x3, arr[GRCh38]22q11.1q11.21(16,408,174_20,291,006)x1 [DiGeorge syndrome]	116.5 3.88	Seq[GRCh37]11p15.5-q23.3(230,616_116,744,147)x3 Seq[GRCh37]22q11.1-q11.21(16,408,174_20,291,006)x1	103 4	✓
5	AF	arr[GRCh38] 15q13.2q13.3(30,820,717_32,622,039)x1	1.8	Seq[GRCh37]15q13.2-q13.3(30,885,000_32,485,000)x1	1.02	✓
6	Peripheral Blood	arr[GRCh38] 5q35.2q35.3(175,989,093_178,055,505)x1	2.0	Seq[GRCh37]5q35.2 - q35.3(75,568,094_177,768,094)x1	2.2	✓
7	Peripheral Blood	arr[GRCh38] 22q13.32q13.33(48,199,706_50,759,338)x1 [Phelan-McDermid syndrome]	2.5	Seq[GRCh37]22q13.32 - q13.33(48,470,380_51,304,566)x1	2.8	✓
8	Peripheral Blood	arr[GRCh38] 22q11.21(18,950,000_21,108,369)x1 [DiGeorge syndrome]	2.1	Seq[GRCh37]22q11.21(18,762,659_21,870,380)x1	3	✓
9	POC	arr[GRCh38]Yq11.23(25,519,063_26,318,566)x2 Yq11.223q11.23(23,717,662_24,887,532)x2	1.1 0.8	Seq[GRCh37]Yq11.223 - q11.23(124,655,552_28,476,607)x2	3.8	✓
10	AF	arr[GRCh38] 9q22.1q22.31(87,988,200_92,870,072)x1	4.8	Seq[GRCh37]9q22.1-q22.31(90,521,336_95,971,336)x1	5.4	✓
11	POC	arr[GRCh38] 10q22.3(79,625,681_80,213,053)x1, arr[GRCh38]15q11.2q13.1(23,102,621_28,458,904)x1 [Angelman syndrome/ Prader-Willi syndrome]	0.6 5.3	Seq[GRCh37]10q11.22(18,762,659_21,870,380)x1 Seq[GRCh37]15q11.2 - q13.1(18,762,659_21,870,380)x1	3.3 5.1	✓
12	Peripheral Blood	arr[GRCh38] 18q21.2q21.33(54,720,552_62,003,701)x1	7.2	Seq[GRCh37]18q21.2 - q21.33(52,309,136_59,709,136)x1	7.4	✓
13	Peripheral Blood	arr[GRCh38] 13q32.3q34(101,067,948_114,342,258)x1, arr[GRCh38]16p13.3p13.2(35,881_8,831,829)x3	13.2 8.7	Seq[GRCh37]13q33.1-q34(101,770,197_115,169,878)x1 Seq[GRCh37]16p13.3-p13.2(5,260,000_8,910,000)x3	13.3 3.6	✓
14	AF	arr[GRCh37] 10p15.3p14(100,048_7,701,527)x1	7.6	Seq[GRCh37]10p15.3-p14(0_7,660,000)x1	10	✓
15	Peripheral Blood	arr[GRCh38] 2q12.3q13(108,652,368_110,116,258)x1	1.2	Seq[GRCh37]2q12.3 - q13(109,200,000_111,051,337)x1	1.4	✓
16	Peripheral Blood	arr[GRCh38] 21q11.2q21.3(13,644,166_25,925,065)x1	12.2	Seq[GRCh37]21q11.2 - q21.3(15,500,000_26,800,422)x1	11.3	✓
17	Peripheral Blood	arr[GRCh38] 8q24.21q24.3(130,350,392_145,070,385)x3	14.7	Seq[GRCh37]8q24.21-q24.3(131,400,277_144,250,277)x3	12.9	✓
18	Peripheral Blood	arr[GRCh38]5p15.33p15.2(113,462_13,788,173)x1 [Cri du chat syndrome] arr[GRCh38]20p13p12.1(80,929_15,514,914)x3	13.7 15.5	Seq[GRCh37]5p15.33 - p15.2(0_13,810,000)x1 Seq[GRCh37]20p13 - p12.1(0_13,810,000)x3	13.8 15.6	✓
19	Peripheral Blood	arr[GRCh38] 16p11.2(29,568,701_30,166,595)x1	0.5	Seq[GRCh37]16p11.2 - q11.2(31,910,000_46,800,515)x1	14.8	✓
20	Peripheral Blood	arr[GRCh38] 7p21.3p15.2(10571965-26444007)x1	15.8	Seq[GRCh37]7p21.3 - p15.2(10,560,000_26,460,000)x1	15.9	✓
21	Peripheral Blood	arr[GRCh38] 13q22.2q31.3(75,664,252_91,427,209)x1	15.7	Seq[GRCh37]13q22.2 - q31.3(76,120,197_92,110,324)x1	16	✓
22	Peripheral Blood	arr[GRCh38] 9q34.3(137,434,967_138,124,196)x1	0.7	Seq[GRCh37]9p13.1 - q12(38,814,048_55,146,786)x1	16.33	✓
23	Peripheral Blood	arr[GRCh38] 4q34.1q35.2(172,079,686_190,036,305)x1	17.9	Seq[GRCh37]4q34.1 - q35.2(172,981,307_191,154,276)x1	18.2	✓
24	POC	arr[GRCh38] (13)x3 [Patau syndrome]	95.6	Seq[GRCh37]13p13.1 - q12(0_115,169,878)x3	23	✓
25	AF	arr[GRCh38]6q26q27(162,350,656_170,610,394)x1, arr[GRCh38]7q33q36.3(133,640,234_159,327,017)x3	8.3 25.7	Seq[GRCh37]6q26-q27(162,025,576_171,115,067)x1 Seq[GRCh37]7q33-q36.3(133,113,445_159,138,663)x3	9 26	✓
26	POC	arr[GRCh37] (19)x1	58.6	Seq[GRCh37]19q13.2(8,404,119_49,024,030)x1	40.6	✓
27	CVS	arr[GRCh38] (20)x3 arr[GRCh38](21)x3 [Down syndrome]	64.2 33.1	Seq[GRCh37]20p13 - q13.33(0-63,025,520)x3 Seq[GRCh37]21p13 - q21.2(0_25,800,422)x3; Seq[GRCh37]21q21.2 - q22.3(25,800,422_48,129,895)x3	63 25.8 22.3	✓
28	POC	arr[GRCh38] Xp22.33q28(251,880-156,004,066)x1 [Turner syndrome]	155.7	Seq[GRCh37]Xp22.33 - q28(0_149,158,438)x1 Seq[GRCh37]Xq28(:149,158,438_153,908,438)x1 Seq[GRCh37]Xq28(153,908,438_155,270,560)x1	149 4.7 1.3	✓
29	POC	arr[GRCh38] Xp22.33q28(2,785,592_155,691,858)x2[Klinefelter syndrome]	155.7	Seq[GRCh37]Xp22.33 - q28(0_155,270,560)x3	155.2	✓
30	CVS	arr[GRCh38]Xp22.33q28(2,785,592_155,691,858)x2[Klinefelter syndrome]	155.7	Seq[GRCh37]Xp22.33 - q28(0_155,270,560)x3	155.2	✓

CVS: Chorionic Villus Sampling; POC: Products of conception; AF: Amniotic Fluid;

Why MedGenome?

Well Validated test
Largest CAP-accredited and NABL-certiﬁed Genomics sequencing lab in South Asia

Technical Details

It is a low pass Whole Genome Sequencing test and data is analyzed using bioinformatics algorithms.

Test Code	Test Name	Sample Requirements	TAT	Methodology
MGM2754	Karyoseq (without MCC or other samples)	Peripheral Blood, Direct DNA	8 Working Days	NGS
MGM2777	KaryoSeq with MCC	Chorionic Villus Sampling (CVS)/Amniotic Fluid (AF)/Cultured Amniotic Fluid/Cord Blood/Cardiac Blood/Products of Conception Tissue (POC)/Peripheral Blood, Direct DNA/DNA Isolated from Cell Lines or Cultured Cells	10 Working Days	NGS
MGM2761	Karyoseq with (prenatal cell culture if required)	Chorionic Villus Biopsy, Amniotic Fluid	8 + 12 Working Days	NGS