General Pediatric Diagnostics
DNA Labs India | Diagnostic Tests
General Pediatric Diagnostics
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
Amino Acids Qualitative Two Dimensional Urine Test
To qualitatively assess amino acid levels in urine for the diagnosis and monitoring of inborn errors...
Amino Acids Qualitative CSF Test
The purpose of the Amino Acids Qualitative CSF Test is to diagnose and monitor conditions related to...
Succinylacetone Urine Test
To detect succinylacetone in urine for screening and monitoring Hereditary Tyrosinemia Type 1, aidin...
RXFP2 Gene Cryptorchidism NGS Genetic Test
To identify mutations in the RXFP2 gene associated with cryptorchidism, aiding in diagnosis, risk as...
EFNB1 Gene Craniofrontonasal syndrome NGS Genetic Test
The purpose of the EFNB1 Gene Craniofrontonasal Syndrome NGS Genetic Test is to detect mutations in...
MNX1 Gene Currarino syndrome NGS Genetic Test
To identify mutations in the MNX1 gene that cause Currarino Syndrome, aiding in diagnosis, treatment...
FGFR1 Gene Craniosynostosis, FGFR1 related NGS Genetic Test
To diagnose FGFR1 gene mutations causing craniosynostosis, enabling early intervention and family pl...
COL2A1 Gene Czech dysplasia NGS Genetic Test
To diagnose Czech Dysplasia by identifying pathogenic mutations in the COL2A1 gene, aiding in clinic...
ERF Gene Craniosynostosis type 4 NGS Genetic Test
The purpose of this test is to identify mutations in the ERF gene for the diagnosis of Craniosynosto...
FGFR2 Gene Craniosynostosis, nonspecific NGS Genetic Test
To identify mutations in the FGFR2 gene associated with craniosynostosis for accurate diagnosis, man...
TCF12 Gene Craniosynostosis type 3 NGS Genetic Test
The purpose of the TCF12 Gene Craniosynostosis Type 3 NGS Genetic Test is to identify mutations in t...
HSD17B4 Gene D-bifunctional protein deficiency NGS Genetic Test
The purpose of this test is to identify mutations in the HSD17B4 gene to confirm a diagnosis of D-bi...
ANKH Gene Craniometaphyseal dysplasia NGS Genetic Test
To identify pathogenic mutations in the ANKH gene for definitive diagnosis of craniometaphyseal dysp...
VSX1 Gene Craniofacial anomalies and anterior segment dysgenesis syndrome NGS Genetic Test
To identify mutations in the VSX1 gene that cause craniofacial anomalies and anterior segment dysgen...
XYLT1 Gene Desbuquois dysplasia type 2 NGS Genetic Test
The purpose of this test is to identify mutations in the XYLT1 gene for diagnosing Desbuquois Dyspla...
CANT1 Gene Desbuquois dysplasia type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the CANT1 gene to diagnose Desbuquois dysplasia t...
HMG20B Gene Dysmorphism, HMG20B related NGS Genetic Test
To diagnose HMG20B Gene Dysmorphism by detecting variations in the HMG20B gene using NGS technology.
TBX1 Gene DiGeorge syndrome NGS Genetic Test
To detect deletions or mutations in the TBX1 gene associated with DiGeorge syndrome for accurate dia...
RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test
To identify mutations in the RPS28 gene for diagnosis of Diamond Blackfan anemia type 15 with mandib...
EVC Gene Ellis-van Creveld syndrome NGS Genetic Test
The purpose of the EVC Gene NGS Genetic Test is to identify pathogenic mutations in the EVC gene to...
TP63 Gene Ectodactyly, ectodermal dysplasia, and cleft lip/palate syndrome type 3 NGS Genetic Test
The purpose of the TP63 Gene NGS Genetic Test is to detect mutations in the TP63 gene that cause EEC...
COL2A1 Gene Epiphyseal dysplasia, multiple, with myopia and deafness NGS Genetic Test
The purpose of this test is to detect mutations in the COL2A1 gene that cause epiphyseal dysplasia w...
DOK7 Gene Fetal akinesia deformation sequence NGS Genetic Test
To identify mutations in the DOK7 gene for diagnosis of Fetal Akinesia Deformation Sequence.
KAT6B Gene Genitopatellar syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the KAT6B gene to confirm a diagnosis of Genitopa...
RAPSN Gene Fetal akinesia deformation sequence NGS Genetic Test
To identify genetic mutations in the RAPSN gene that cause Fetal Akinesia Deformation Sequence (FADS...
FGD1 Gene Faciogenital dysplasia NGS Genetic Test
To detect mutations in the FGD1 gene for diagnosis of Faciogenital Dysplasia, aiding in clinical man...
MYCN Gene Feingold syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the MYCN gene and other genes associated with F...
WDR73 Gene Galloway-Mowat syndrome NGS Genetic Test
The purpose of the WDR73 Gene Galloway-Mowat Syndrome NGS Genetic Test is to identify mutations in t...
GHR Gene Growth hormone insensitivity, partial NGS Genetic Test
To detect mutations in the GHR gene that cause growth hormone insensitivity, aiding in diagnosis and...
FH Gene Fumarase deficiency NGS Genetic Test
The purpose of this test is to diagnose Fumarase Deficiency by detecting pathogenic variants in the...
PAFAH1B1 Gene Lissencephaly type 1 NGS Genetic Test
To confirm the diagnosis of Lissencephaly type 1 by identifying mutations in the PAFAH1B1 gene using...
ARX Gene Lissencephaly, X-linked type 2 NGS Genetic Test
To identify mutations in the ARX gene for diagnosis of X-linked lissencephaly type 2, enabling early...
FLNB Gene Larsen syndrome NGS Genetic Test
To identify mutations in the FLNB gene for accurate diagnosis, management, and genetic counseling of...
TUBA1A Gene Lissencephaly type 3 NGS Genetic Test
To diagnose TUBA1A gene mutations associated with lissencephaly type 3, enabling accurate identifica...
MYBPC1 Gene Lethal congenital contracture syndrome type 4 NGS Genetic Test
To diagnose Lethal Congenital Contracture Syndrome Type 4 by detecting mutations in the MYBPC1 gene...
LEFTY2 Gene Left-right axis malformations NGS Genetic Test
To diagnose left-right axis malformations caused by LEFTY2 gene mutations, enabling personalized tre...
TP63 Gene Limb-mammary syndrome NGS Genetic Test
The purpose of this test is to diagnose TP63 gene limb-mammary syndrome by detecting mutations in th...
FGFR2 Gene LADD syndrome NGS Genetic Test
To diagnose LADD syndrome by detecting mutations in the FGFR2 gene using Next-Generation Sequencing...
CEP63 Gene Microcephaly, CEP63 related NGS Genetic Test
To detect mutations in the CEP63 gene associated with microcephaly, enabling early diagnosis, geneti...
KNL1 Gene Microcephaly, autosomal recessive type 4 NGS Genetic Test
The purpose of the KNL1 Gene Microcephaly NGS Genetic Test is to confirm a diagnosis of autosomal re...
PHC1 Gene Microcephaly, autosomal recessive type 11 NGS Genetic Test
To diagnose PHC1 gene-related microcephaly through genetic analysis, aiding in clinical management a...
CENPJ Gene Microcephaly, autosomal recessive type 6 NGS Genetic Test
The purpose of the CENPJ Gene Microcephaly NGS Genetic Test is to confirm the diagnosis of autosomal...
MSMO1 Gene Microcephaly, MSMO1 related NGS Genetic Test
The purpose of the MSMO1 Gene Microcephaly NGS Genetic Test is to diagnose genetic mutations in the...
CEP135 Gene Microcephaly, autosomal recessive type 8 NGS Genetic Test
To identify mutations in the CEP135 gene that cause autosomal recessive type 8 microcephaly, aiding...
CDK6 Gene Microcephaly, autosomal recessive type 12 NGS Genetic Test
The purpose of the CDK6 Gene Microcephaly NGS Genetic Test is to detect pathogenic mutations in the...
STIL Gene Microcephaly, autosomal recessive type 7 NGS Genetic Test
The purpose of this test is to detect mutations in the STIL gene associated with autosomal recessive...
QARS1 Gene Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy NGS Genetic Test
The purpose of this test is to detect mutations in the QARS1 gene associated with progressive microc...
RTTN Gene Microcephaly, short stature, and polymicrogyria with seizures NGS Genetic Test
To detect pathogenic mutations in the RTTN gene that cause microcephaly, short stature, and polymicr...
YWHAE Gene Miller Dieker lissencephaly syndrome NGS Genetic Test
To detect mutations in the YWHAE gene for diagnosis of Miller Dieker Lissencephaly Syndrome, enablin...
HNRNPU Gene RNA processing related disorders NGS Genetic Test
To detect mutations in the HNRNPU gene for diagnosis of RNA processing related disorders, aiding in...
FOXG1 Gene Rett syndrome, congenital variant NGS Genetic Test
To confirm the diagnosis of FOXG1 Gene Rett Syndrome congenital variant through comprehensive geneti...
RDH11 Gene Retinal dystrophy, juvenile cataracts, and short stature syndrome NGS Genetic Test
To identify mutations in the RDH11 gene for diagnosis of retinal dystrophy, juvenile cataracts, and...
DHODH Gene Postaxial acrofacial dysostosis NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the DHODH gene to confirm a diagnosi...
CHRM3 Gene Prune belly syndrome NGS Genetic Test
The purpose of this test is to diagnose Prune Belly Syndrome by identifying mutations in the CHRM3 g...
PEX5 Gene Rhizomelic chondrodysplasia punctata type 5 NGS Genetic Test
To detect mutations in the PEX5 gene for the diagnosis of Rhizomelic chondrodysplasia punctata type...
ESCO2 Gene Roberts syndrome NGS Genetic Test
The purpose of the ESCO2 Gene Roberts Syndrome NGS Genetic Test is to confirm the diagnosis of Rober...
DVL1 Gene Robinow syndrome, autosomal dominant type 2 NGS Genetic Test
To diagnose autosomal dominant type 2 Robinow syndrome by detecting mutations in the DVL1 gene using...
WNT5A Gene Robinow syndrome, autosomal dominant type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the WNT5A gene to confirm a diagnosis of Robinow...
GNPAT Gene Rhizomelic chondrodysplasia punctata type 2 NGS Genetic Test
The purpose of the GNPAT Gene RCDP2 NGS Genetic Test is to accurately diagnose Rhizomelic chondrodys...
ROR2 Gene Robinow syndrome, autosomal recessive NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ROR2 gene to confirm a diagnosis...
TWIST1 Gene Saethre-Chotzen syndrome NGS Genetic Test
To diagnose Saethre-Chotzen Syndrome by identifying mutations in the TWIST1 gene using Next-Generati...
ESCO2 Gene SC Phocomelia syndrome NGS Genetic Test
The purpose of the ESCO2 Gene SC Phocomelia Syndrome NGS Genetic Test is to identify mutations in th...
SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic Test
The purpose of this test is to confirm a diagnosis of Schinzel-Giedion midface retraction syndrome b...
SLC35D1 Gene Schneckenbecken dysplasia NGS Genetic Test
The purpose of the SLC35D1 Gene Schneckenbecken Dysplasia NGS Genetic Test is to confirm a diagnosis...
FGFR2 Gene Scaphocephaly, maxillary retrusion, and mental retardation NGS Genetic Test
To identify mutations in the FGFR2 gene associated with Scaphocephaly, Maxillary Retrusion, and Ment...
TWIST1 Gene Robinow-Sorauf syndrome NGS Genetic Test
To identify mutations in the TWIST1 gene for the diagnosis of Robinow-Sorauf Syndrome, enabling appr...
NHEJ1 Gene Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NGS Genetic Test
To identify pathogenic mutations in the NHEJ1 gene responsible for severe combined immunodeficiency...
HESX1 Gene Septooptic dysplasia NGS Genetic Test
The purpose of the HESX1 Gene Septooptic Dysplasia NGS Genetic Test is to identify pathogenic mutati...
WNT4 Gene SERKAL syndrome NGS Genetic Test
To diagnose SERKAL syndrome by detecting mutations in the WNT4 gene using NGS technology, enabling e...
WDR19 Gene Short-rib thoracic dysplasia type 5 with or without polydactyly NGS Genetic Test
The purpose of this test is to diagnose Short-rib thoracic dysplasia type 5 (SRTD5) by detecting pat...
NEK1 Gene Short-rib thoracic dysplasia type 6 with or without polydactyly NGS Genetic Test
The purpose of this test is to detect mutations in the NEK1 gene to confirm diagnosis of short-rib t...
WDR35 Gene Short-rib thoracic dysplasia type 7 with or without polydactyly NGS Genetic Test
The purpose of this test is to identify mutations in the WDR35 gene to confirm a diagnosis of short-...
IFT172 Gene Short-rib thoracic dysplasia type 10 with or without polydactyly NGS Genetic Test
The purpose of this test is to detect mutations in the IFT172 gene to confirm a diagnosis of Short-r...
TTC21B Gene Short-rib thoracic dysplasia type 4 with or without polydactyly NGS Genetic Test
The purpose of the TTC21B Gene SRTD4 NGS Genetic Test is to identify mutations in the TTC21B gene th...
WDR60 Gene Short-rib thoracic dysplasia type 8 with or without polydactyly NGS Genetic Test
To identify genetic mutations in the WDR60 gene that cause Short-rib thoracic dysplasia type 8, aidi...
DYNC2H1 Gene Short-rib thoracic dysplasia type 3 with or without polydactyly NGS Genetic Test
To diagnose Short-rib thoracic dysplasia type 3 with or without polydactyly by identifying pathogeni...
WDR34 Gene Short-rib thoracic dysplasia type 11 with or without polydactyly NGS Genetic Test
To diagnose Short-Rib Thoracic Dysplasia Type 11 with or without Polydactyly by detecting mutations...
maternal UPD chr. 7 Gene Silver-Russell syndrome NGS Genetic Test
To accurately diagnose Silver-Russell Syndrome by detecting maternal UPD of chromosome 7 and other g...
ZIC5 Gene ZIC5 related brain disorders NGS Genetic Test
The purpose of the ZIC5 Gene NGS Genetic Test is to detect pathogenic variants in the ZIC5 gene, aid...
GPC3 Gene Simpson-Golabi-Behmel syndrome type 1 NGS Genetic Test
The purpose of this test is to identify disease-causing variants in the GPC3 gene in individuals wit...
Dysmorphology Panel NGS Genetic Test
The primary purpose of the Dysmorphology Panel NGS Genetic Test is to identify the genetic basis of...
COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
The purpose of this test is to diagnose Achondrogenesis type 2 by identifying mutations in the COL2A...
Noonan - RASophathies Panel NGS Genetic Test
To identify genetic mutations associated with Noonan syndrome and related RASopathies for diagnostic...
NPR2 Gene Acromesomelic dysplasia, Maroteaux type NGS Genetic Test
The purpose of this test is to detect mutations in the NPR2 gene for the diagnosis of acromesomelic...
GMPPA Gene Alacrima, achalasia and mental retardation syndrome NGS Genetic Test
To diagnose Alacrima, Achalasia and Mental Retardation Syndrome (GAARS) by detecting mutations in th...
LARP7 Gene Alazami syndrome NGS Genetic Test
To diagnose Alazami syndrome by identifying mutations in the LARP7 gene using NGS technology.
TP63 Gene Ankyloblepharon-ectodermal defects-cleft lip/palate NGS Genetic Test
The purpose of this test is to identify mutations in the TP63 gene to confirm a diagnosis of Ankylob...
FGFR2 Gene Apert syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FGFR2 gene to confirm a diagnosi...
FGFR2 Gene Antley-Bixler syndrome NGS Genetic Test
The purpose of the FGFR2 Gene Antley-Bixler Syndrome NGS Genetic Test is to detect mutations in the...
HOXA1 Gene Athabaskan brainstem dysgenesis syndrome NGS Genetic Test
The purpose of this test is to diagnose Athabaskan Brainstem Dysgenesis Syndrome by detecting mutati...
NKX2-5 Gene Atrial septal defect with atrioventricular conduction defects NGS Genetic Test
To detect mutations in the NKX2-5 gene associated with atrial septal defect and atrioventricular con...
PLCB4 Gene Auriculocondylar syndrome type 2 NGS Genetic Test
To detect mutations in the PLCB4 gene for diagnosis of Auriculocondylar Syndrome Type 2.
FOXC1 Gene Axenfeld-Rieger syndrome type 3 NGS Genetic Test
To detect mutations in the FOXC1 gene for accurate diagnosis of Axenfeld-Rieger Syndrome Type 3, fac...
ASXL3 Gene Bainbridge-Ropers syndrome NGS Genetic Test
To detect mutations in the ASXL3 gene associated with Bainbridge-Ropers Syndrome for diagnostic conf...
ACTB Gene Baraitser-Winter syndrome type 1 NGS Genetic Test
The purpose of this test is to diagnose Baraitser-Winter Syndrome Type 1 by detecting pathogenic mut...
ACTG1 Gene Baraitser-Winter syndrome type 2 NGS Genetic Test
The purpose of this test is to diagnose Baraitser-Winter Syndrome Type 2 by detecting pathogenic mut...
SUFU Gene Basal cell nevus syndrome NGS Genetic Test
To detect mutations in the SUFU gene for diagnosis, risk assessment, and management of Basal Cell Ne...
SLC20A2 Gene Basal ganglia calcification type 1, ideopathic NGS Genetic Test
To identify mutations in the SLC20A2 gene associated with basal ganglia calcification type 1 for dia...
BMP2 Gene Brachydactyly type A2 NGS Genetic Test
The purpose of the BMP2 Gene Brachydactyly type A2 NGS Genetic Test is to detect mutations in the BM...
HOXD13 Gene Brachydactyly type E1 NGS Genetic Test
To identify mutations in the HOXD13 gene for diagnosis and genetic counseling of Brachydactyly Type...
HOXD13 Gene Brachydactyly-syndactyly syndrome NGS Genetic Test
To diagnose brachydactyly-syndactyly syndrome by detecting mutations in the HOXD13 gene using NGS te...
HDAC4 Gene Brachydactyly-mental retardation syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the HDAC4 gene to diagnose Brachydactyly-mental r...
SOX9 Gene Campomelic dysplasia NGS Genetic Test
To detect mutations in the SOX9 gene associated with Campomelic Dysplasia for accurate diagnosis, ma...
CD96 Gene C syndrome NGS Genetic Test
The purpose of the CD96 Gene C Syndrome NGS Genetic Test is to identify mutations in the CD96 gene t...
RAB23 Gene Carpenter syndrome NGS Genetic Test
The purpose of the RAB23 Gene Carpenter Syndrome NGS Genetic Test is to confirm the diagnosis of Car...
VANGL1 Gene Caudal regression syndrome NGS Genetic Test
To detect mutations in the VANGL1 gene associated with Caudal Regression Syndrome for accurate diagn...
PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify mutations in the PHOX2B gene that cause Central Hypoventilat...
ECE1 Gene Central hypoventilation syndrome, congenital NGS Genetic Test
The purpose of this test is to diagnose congenital central hypoventilation syndrome caused by mutati...
PHOX2A Gene Central hypoventilation syndrome, congenital NGS Genetic Test
To diagnose Central Hypoventilation Syndrome (CHS) by detecting mutations in the PHOX2A gene using N...
CHD7 Gene CHARGE syndrome NGS Genetic Test
The purpose of this test is to diagnose CHARGE syndrome by detecting pathogenic variants in the CHD7...
PIGL Gene CHIME syndrome NGS Genetic Test
To diagnose CHIME syndrome by identifying pathogenic mutations in the PIGL gene using next-generatio...
PITX1 Gene Club foot NGS Genetic Test
To identify mutations in the PITX1 gene associated with clubfoot, enabling genetic diagnosis, risk a...
BMPR1B Gene Chrondrodysplasia, acromesomelic, with genital anomalies NGS Genetic Test
To diagnose Chondrodysplasia, Acromesomelic, with Genital Anomalies (CAMGA) by identifying mutations...
MEIS2 Gene Cleft palate, cardiac defects, and mental retardation NGS Genetic Test
To identify mutations in the MEIS2 gene for diagnosis of associated developmental disorders, facilit...
CRLF1 Gene Cold-induced sweating syndrome NGS Genetic Test
To diagnose Cold-Induced Sweating Syndrome by detecting mutations in the CRLF1 gene using Next-Gener...
SMARCE1 Gene Coffin-Siris syndrome, SMARCE1 related NGS Genetic Test
The purpose of this test is to detect mutations in the SMARCE1 gene to confirm a diagnosis of Coffin...
LAMC3 Gene Cortical malformations, occipital NGS Genetic Test
To identify mutations in the LAMC3 gene causing cortical malformations for accurate diagnosis and ma...
ARX Gene Corpus callosum, agenesis of, with abnormal genitalia NGS Genetic Test
To diagnose mutations in the ARX gene associated with corpus callosum agenesis and abnormal genitali...
TBX15 Gene Cousin syndrome NGS Genetic Test
To diagnose Cousin syndrome by detecting mutations in the TBX15 gene using NGS technology.
HRAS Gene Costello syndrome NGS Genetic Test
The purpose of the HRAS Gene Costello Syndrome NGS Genetic Test is to identify pathogenic mutations...
IFT43 Gene Cranioectodermal dysplasia type 3 NGS Genetic Test
To detect mutations in the IFT43 gene for diagnosis of Cranioectodermal dysplasia type 3 and to aid...
IL11RA Gene Craniosynostosis and dental anomalies NGS Genetic Test
To identify mutations in the IL11RA gene that cause craniosynostosis and dental anomalies, aiding in...
WNT7A Gene Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly NGS Genetic Test
To identify mutations in the WNT7A gene for accurate diagnosis of fibular aplasia, femoral bowing, a...
FREM2 Gene Fraser syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FREM2 gene that cause Fraser Syndrome, enab...
ALX4 Gene Frontonasal dysplasia type 2 NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the ALX4 gene to confirm a diagnosis o...
ALX3 Gene Frontonasal dysplasia type 1 NGS Genetic Test
The purpose of the ALX3 Gene Frontonasal Dysplasia Type 1 NGS Genetic Test is to identify mutations...
IRX5 Gene Hamamy syndrome NGS Genetic Test
To diagnose Hamamy Syndrome by detecting pathogenic mutations in the IRX5 gene using NGS technology.
FTO Gene Growth retardation, developmental delay, facial dysmorphism NGS Genetic Test
To detect mutations in the FTO gene responsible for growth retardation, developmental delay, and fac...
HOXA13 Gene Guttmacher syndrome NGS Genetic Test
To detect mutations in the HOXA13 gene for diagnosis of Guttmacher Syndrome.
FGFR1 Gene Hartsfield syndrome NGS Genetic Test
To diagnose Hartsfield syndrome by detecting pathogenic mutations in the FGFR1 gene using next-gener...
HOXA13 Gene Hand-foot-uterus syndrome NGS Genetic Test
To identify mutations in the HOXA13 gene for diagnosis of Hand-Foot-Uterus syndrome, aiding in clini...
LMNA Gene Heart-hand syndrome, Slovenian type NGS Genetic Test
To diagnose LMNA gene mutations causing heart-hand syndrome, Slovenian type, enabling early manageme...
ZIC3 Gene Heterotaxy, visceral type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the ZIC3 gene that cause heterotaxy, visceral typ...
MMP21 Gene Heterotaxy, visceral type 7 NGS Genetic Test
The purpose of this test is to diagnose MMP21 Gene Heterotaxy, Visceral Type 7 by identifying mutati...
PKD1L1 Gene Heterotaxy, visceral type 8, autosomal NGS Genetic Test
To identify pathogenic mutations in the PKD1L1 gene for the diagnosis of Heterotaxy, Visceral Type 8...
ECE1 Gene Hirschsprung disease NGS Genetic Test
The purpose of the ECE1 Gene Hirschsprung Disease NGS Genetic Test is to diagnose Hirschsprung disea...
BCL9L Gene Heterotaxy, visceral, BCL9L related NGS Genetic Test
The purpose of the BCL9L Gene Heterotaxy Test is to identify mutations in the BCL9L gene that cause...
NRG1 Gene Hirschsprung disease NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the NRG1 gene to confirm or rule out a...
EDNRB Gene Hirschsprung disease NGS Genetic Test
The purpose of this test is to detect mutations in the EDNRB gene that cause Hirschsprung disease, e...
RET Gene Hirschsprung disease NGS Genetic Test
To identify mutations in the RET gene associated with Hirschsprung disease for accurate diagnosis, r...
KIF1BP Gene Hirschsprung disease NGS Genetic Test
The purpose of the KIF1BP Gene Hirschsprung Disease NGS Genetic Test is to identify pathogenic mutat...
NRTN Gene Hirschsprung disease NGS Genetic Test
The purpose of this test is to identify mutations in the NRTN gene that may cause Hirschsprung disea...
ZEB2 Gene Hirschsprung disease NGS Genetic Test
To detect pathogenic mutations in the ZEB2 gene for the diagnosis and management of Hirschsprung dis...
GDNF Gene Hirschsprung disease, type 3, susceptibility to NGS Genetic Test
To identify mutations in the GDNF gene associated with Hirschsprung disease type 3 for accurate diag...
GLI2 Gene Holoprosencephaly-type 9 NGS Genetic Test
To detect pathogenic mutations in the GLI2 gene for the diagnosis of Holoprosencephaly-type 9, aidin...
TBX5 Gene Holt-Oram syndrome NGS Genetic Test
To identify mutations in the TBX5 gene for accurate diagnosis of Holt-Oram syndrome, aiding in clini...
CDON Gene Holoprosencephaly type 11 NGS Genetic Test
The purpose of the CDON Gene Holoprosencephaly Type 11 NGS Genetic Test is to identify mutations in...
LMNA Gene Hutchinson-Gilford progeria NGS Genetic Test
The purpose of this test is to identify mutations in the LMNA gene that cause Hutchinson-Gilford Pro...
FGFR1 Gene Jackson-Weiss syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FGFR1 gene that cause Jackson-Weiss syndrom...
RBBP8 Gene Jawad syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Jawad Syndrome by identifying pathoge...
ANKRD11 Gene KBG syndrome NGS Genetic Test
The primary purpose of the ANKRD11 Gene KBG Syndrome NGS Genetic Test is to confirm or rule out a di...
FGF10 Gene LADD syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FGF10 gene that are associated w...
PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Marden-Walker syndrome by identifying...
MED13L Gene Mental retardation and distinctive facial features with or without cardiac defects NGS Genetic Test
The purpose of this test is to identify mutations in the MED13L gene that are associated with intell...
CDT1 Gene Meier-Gorlin syndrome type 4 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Meier-Gorlin syndrome type 4 by ident...
SOS1 Gene Noonan syndrome type 4 NGS Genetic Test
The purpose of the SOS1 gene NGS genetic test is to confirm a clinical diagnosis of Noonan syndrome...
MSX2 Gene Parietal foramina type 1 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of parietal foramina type 1 by identifyi...
FGFR1 Gene Pfeiffer syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the FGFR1 gene that cause Pfeiffer sy...
ATRIP Gene Seckel syndrome NGS Genetic Test
The purpose of this NGS genetic test is to detect mutations in the ATRIP gene that cause Seckel synd...
NFIX Gene Sotos-like syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the NFIX gene that cause Sotos-like s...
PAX9 Gene Tooth agenesis, selective type 3 NGS Genetic Test
The purpose of this test is to identify mutations in the PAX9 gene that cause selective tooth agenes...
MSX1 Gene Tooth agenesis, selective type 1 NGS Genetic Test
The purpose of this test is to identify pathogenic variants in the MSX1 gene that are associated wit...
POLR1D Gene Treacher Collins syndrome type 2 NGS Genetic Test
The purpose of the POLR1D gene NGS genetic test is to identify mutations in the POLR1D gene that cau...
chr. 7q11.23 Gene Williams-Beuren syndrome NGS Genetic Test
The purpose of this NGS genetic test is to confirm a clinical diagnosis of Williams-Beuren syndrome...