Pediatric Genetics
DNA Labs India | Diagnostic Tests
Pediatric Genetics
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the MSX2 gene to confirm a diagnosis of craniosyn...
EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
To identify mutations in the EVC2 gene for the diagnosis of Ellis-van Creveld Syndrome, aiding in cl...
FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the FGFR2 gene to diagnose Saethre-Chotzen syndro...
Prader-Willi Syndrome Mutation Detection Methylation Specific PCR Test
To detect abnormal methylation in the chromosome 15q11-q13 region and support the diagnosis of Prade...
TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the TSPYL1 gene that cause Sudden Infant Death...
ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
To detect pathogenic mutations in the ATRX gene for definitive diagnosis of Alpha-thalassemia/mental...
PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Blomstrand type chondrodysplasia by detectin...
IGF1 Gene Growth retardation with deafness and mental retardation due to IGF1 deficiency NGS Genetic Test
The purpose of this test is to diagnose IGF1 deficiency by detecting pathogenic variants in the IGF1...
CFC1 Gene Heterotaxy, visceral type 2 NGS Genetic Test
To identify pathogenic mutations in the CFC1 gene associated with Heterotaxy, Visceral Type 2, aidin...
CFAP53 Gene Heterotaxy, visceral type 6 NGS Genetic Test
To identify mutations in the CFAP53 gene that cause Heterotaxy Syndrome, Visceral Type 6, aiding in...
SHH Gene Holoprosencephaly type 3 NGS Genetic Test
The purpose of the SHH Gene Holoprosencephaly Type 3 NGS Genetic Test is to detect mutations in the...
PGAP2 Gene Hyperphosphatasia with mental retardation syndrome type 3 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the PGAP2 gene that cause Hyperphos...
CDKN1C Gene IMAGE syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the CDKN1C gene that cause IMAGE syndrome. It is...
SALL4 Gene IVIC syndrome NGS Genetic Test
The primary purpose of the SALL4 Gene IVIC syndrome NGS genetic test is to confirm a clinical diagno...
TTC7A Gene Intestinal atresia, multiple NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the TTC7A gene that are associated with...
PROK2 Gene Kallmann syndrome type 4 NGS Genetic Test
The purpose of the PROK2 Gene NGS Genetic Test is to detect mutations in the PROK2 gene that cause K...
KMT2D Gene Kabuki syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the KMT2D gene that cause Kabuki syn...
FGFR1 Gene Kallmann syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the FGFR1 gene that are associated wi...
paternal UPD chr. 14 Gene Kagami-Ogata syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm the diagnosis of Kagami-Ogata syndrome by detecti...
MGP Gene Keutel syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Keutel syndrome by identi...
KANSL1 Gene Koolen syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of Koolen Syndrome by identi...
EXT1 Gene Langer-Giedion syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect pathogenic variants or deletions in the EXT1 gene...
TRPS1 Gene Langer-Giedion syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm or rule out a clinical diagnosis of Langer-Giedio...
RIN2 Gene Macrocephaly, alopecia, cutis laxa, and scoliosis NGS Genetic Test
The purpose of the RIN2 Gene NGS Genetic Test is to confirm or rule out mutations in the RIN2 gene i...
ORC1 Gene Meier-Gorlin syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 1 by ident...
INPP5E Gene Mental retardation, truncal obesity, retinal dystrophy, and micropenis NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the INPP5E gene that may be responsi...
MMP13 Gene Metaphyseal anadysplasia type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the MMP13 gene that cause Metaphyseal Anadyspla...
PCNT Gene Microcephalic osteodysplastic primordial dwarfism type 2 NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Microcephalic osteodyspla...
TRIM37 Gene Mulibrey nanism NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the TRIM37 gene to confirm a di...
CEP57 Gene Mosaic variegated aneuploidy syndrome type 2 NGS Genetic Test
The primary purpose of this test is to confirm a clinical suspicion of Mosaic Variegated Aneuploidy...
PIGN Gene Multiple congenital anomalies-hypotonia-seizures syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Multiple Congenital Anomalies-Hypoton...
PTPN11 Gene Noonan syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Noonan Syndrome Type 1 by detecting p...
SHOC2 Gene Noonan syndrom like NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Noonan syndrome-like disorder caus...
LZTR1 Gene Noonan syndrome type 10 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the LZTR1 gene that are associated w...
KRAS Gene Noonan syndrome type 3 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Noonan syndrome type 3 by identify...
RAF1 Gene Noonan syndrome type 5 NGS Genetic Test
The purpose of this test is to detect mutations in the RAF1 gene that are associated with Noonan syn...
NRAS Gene Noonan syndrome type 6 NGS Genetic Test
The purpose of this test is to confirm or rule out a diagnosis of Noonan syndrome type 6 in individu...
RIT1 Gene Noonan syndrome type 8 NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the RIT1 gene that are associated with...
NAA10 Gene Ogden syndrome NGS Genetic Test
The purpose of this test is to confirm or rule out Ogden syndrome in individuals presenting with cha...
CBL Gene Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the CBL gene that cause Noonan synd...
MED12 Gene Opitz-Kaveggia syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Opitz-Kaveggia syndrome by identifyin...
SUMO1 Gene Orofacial cleft type 10 NGS Genetic Test
The primary purpose of this test is to identify mutations in the SUMO1 gene that cause orofacial cle...
MSX1 Gene Orofacial cleft type 5 NGS Genetic Test
The purpose of this NGS genetic test is to identify mutations in the MSX1 gene that cause Orofacial...
BMP4 Gene Orofacial cleft type 11 NGS Genetic Test
The primary purpose of the BMP4 gene orofacial cleft type 11 NGS genetic test is to confirm a diagno...
NECTIN1 Gene Orofacial cleft type 7 NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of orofacial cleft type 7 by ide...
IRF6 Gene Orofacial cleft type 6 NGS Genetic Test
The purpose of the IRF6 gene NGS genetic test is to identify pathogenic mutations in the IRF6 gene t...
DIS3L2 Gene Perlman Syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Perlman syndrome by identifying patho...
chr. 22q13.3 Gene Phelan-McDermid syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect deletions or mutations in the SHANK3 gene on chrom...
FGFR2 Gene Pfeiffer syndrome NGS Genetic Test
The primary purpose of this test is to identify disease-causing mutations in the FGFR2 gene that are...
COL2A1 Gene Platyspondylic skeletal dysplasia, Torrance type NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic variants in the COL2A1 gene that caus...
RBBP8 Gene Seckel syndrome type 2 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the RBBP8 gene that cause Seckel synd...
ATR Gene Seckel syndrome type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ATR gene that cause Seckel syndr...
CENPJ Gene Seckel syndrome type 4 NGS Genetic Test
The purpose of the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic Test is to confirm or rule out a di...
CEP63 Gene Seckel syndrome type 6 NGS Genetic Test
The purpose of this test is to confirm or rule out a clinical diagnosis of Seckel Syndrome Type 6 by...
COL2A1 Gene SED congenita NGS Genetic Test
The purpose of this test is to identify disease-causing mutations in the COL2A1 gene in individuals...
ZBTB16 Gene Skeletal defects, genital hypoplasia, and mental retardation NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the ZBTB16 gene that may be responsib...
NSD1 Gene Sotos syndrome type 1 NGS Genetic Test
The primary purpose of the NSD1 Gene Sotos Syndrome Type 1 NGS Genetic Test is to identify mutations...
NKX3-2 Gene Spondylo-megaepiphyseal-metaphyseal dysplasia NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Spondylo-megaepiphyseal-metaphyseal d...
TBX6 Gene Spondylocostal dysostosis type 5 NGS Genetic Test
The purpose of this test is to identify mutations in the TBX6 gene that cause Spondylocostal Dysosto...
LIFR Gene Stuve-Wiedemann syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the LIFR gene that cause Stuve-Wiede...
HOXD13 Gene Syndactyly type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Syndactyly type 1 by detecting mutati...
HOXD13 Gene Syndactyly type 5 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of syndactyly type 5 by identifying path...
BHLHA9 Gene Syndactyly, mesoaxial synostotic, with phalangeal reduction NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the BHLHA9 gene that cause syndactyly...
RBM10 Gene Tarp syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the RBM10 gene that cause TARP syndrome. Early di...
CHSY1 Gene Temtamy preaxial brachydactyly syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the CHSY1 gene that are associated with Temtamy p...
maternal UPD chr. 14 Gene Temple syndrome NGS Genetic Test
The purpose of this test is to confirm the diagnosis of Maternal UPD chr. 14 Gene Temple Syndrome in...
CUL7 Gene Three M syndrome type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Three M Syndrome type 1 by identifyin...
FAM58A Gene Toe syndactyly, telecanthus, and anogenital and renal malformations NGS Genetic Test
The purpose of this test is to confirm or rule out a genetic cause for symptoms such as toe syndacty...
OBSL1 Gene Three M syndrome type 2 NGS Genetic Test
The primary purpose of the OBSL1 Gene Three M Syndrome Type 2 NGS Genetic Test is to confirm or rule...
FGFR1 Gene Trigonocephaly type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FGFR1 gene that cause trigonocep...
WNT7A Gene Ulna and fibula, absence of, with severe limb deficiency NGS Genetic Test
The primary purpose of this test is to confirm a clinical diagnosis of WNT7A-related limb deficiency...
EPG5 Gene Vici syndrome NGS Genetic Test
The purpose of the EPG5 Gene Vici Syndrome NGS Genetic Test is to detect mutations in the EPG5 gene...
HOXD13 Gene Vater association NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the HOXD13 gene that may be associate...
RAB3GAP1 Gene Warburg micro syndrome type 1 NGS Genetic Test
The purpose of this test is to identify mutations in the RAB3GAP1 gene that cause Warburg Micro Synd...
ARNT2 Gene Webb-Dattani syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm or rule out a diagnosis of Webb-Dattani syndrome...