Virtus Genetics
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Genes & Diseases - What we test for

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Disease
Code
Fur Further Information
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
ZMPSTE24
MANNOSIDOSIS, ALPHA B, LYSOSOMAL
MAN2B1
MAPLE SYRUP URINE DISEASE TYPE 1A
BCKDHA
MAPLE SYRUP URINE DISEASE TYPE 1B, BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE
BCKDHB
MAPLE SYRUP URINE DISEASE TYPE 2
DBT
MARINESCO-SJOGREN SYNDROME
SIL1
MARTSOLF SYNDROME
GAP2
MASA SYNDROME
L1CAM
MECKEL SYNDROME TYPE 1
MKS1
MECKEL SYNDROME, TYPE 5
RPGRIP1L
MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS
MLC1
MENKES DISEASE
ATP7A
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
CASK
MENTAL RETARDATION AUTOSOMAL RECESSIVE 6
GRIK2
MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA & DISTINCTIVE FACIAL APPEARANCE
OPHN1
MENTAL RETARDATION X-LINKED 19 INCLUDED
RPS6KA3
MENTAL RETARDATION X-LINKED 72
RAB39B
MENTAL RETARDATION X-LINKED 88
AGTR2
MENTAL RETARDATION X-LINKED 90
DLG3
MENTAL RETARDATION X-LINKED ASSOCIATED WITH FRAGILE SITE
AFF2
MENTAL RETARDATION X-LINKED SYP-RELATED, 96
SYP
MENTAL RETARDATION X-LINKED WITH BRACHYDACTYLY AND MACROGLOSSIA
CUL4B
MENTAL RETARDATION, 12
ST3GAL3
MENTAL RETARDATION, 13
TRAPPC9
MENTAL RETARDATION, 7
TUSC3
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
PRSS12
MENTAL RETARDATION, AUTOSOMAL, 5
NSUN2
MENTAL RETARDATION, SYNDROMIC, 35
RPL10
MENTAL RETARDATION, X-LINKED
NXF5
MENTAL RETARDATION, X-LINKED 21
IL1RAPL1
MENTAL RETARDATION, X-LINKED 30
PAK3
MENTAL RETARDATION, X-LINKED 41,48 MRX41,48
GDI1
MENTAL RETARDATION, X-LINKED 46
ARHGEF6
MENTAL RETARDATION, X-LINKED 59
AP1S2
MENTAL RETARDATION, X-LINKED 9
FTSJ1
MENTAL RETARDATION, X-LINKED 93
BRWD3
MENTAL RETARDATION, X-LINKED ANGELMAN, SYNDROMIC, CHRISTIANSON
SLC9A6
MENTAL RETARDATION, X-LINKED, 63
ACSL4
MENTAL RETARDATION, X-LINKED, 89
ZNF41
MENTAL RETARDATION, X-LINKED, 92
ZNF674
MENTAL RETARDATION, X-LINKED, 97
ZNF711
MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE
SMS
MENTAL RETARDATION, X-LINKED, SYNDROMIC
KDM5C
MENTAL RETARDATION, X-LINKED, SYNDROMIC 10
HSD17B10
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 14
UPF3B
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 30
UBE2A
MENTAL RETARDATION, X-LINKED, SYNDROMIC, 9
ZDHHC9
MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
HUWE1
MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM
SOX3
METACHROMATIC LEUKODYSTROPHY
ARSA
METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
PSAP
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
MMACHC
METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
MUT
METHYLMALONIC ACIDURIA, cblA TYPE
MMAA
METHYLMALONIC ACIDURIA, cblB TYPE
MMAB
MEVALONIC ACIDURIA
MVK
MICROPHTHALMIA, SYNDROMIC 2
BCOR
MICROPHTHALMIA, SYNDROMIC 9, MATTHEW-WOOD SYNDROME
STRA6
MITOCHONDRIAL COMPLEX III DEFICIENCY
UQCRB
MITOCHONDRIAL COMPLEX III DEFICIENCY, TYPE 1
BCS1L
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM
C10ORF2
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
TYMP
MOLYBDENUM COFACTOR DEFICIENCY
MOCS2
MOLYBDENUM COFACTOR DEFICIENCY A
MOCS1
mtDNA DEPLETION, ENCEPHALOMYOPATHIC FORM
RRM2B
mtDNA DEPLETION, ENCEPHALOMYOPATHIC FORM, 5
SUCLA2
mtDNA DEPLETION, HEPATOCEREBRAL FORM
MPV17
mtDNA DEPLETION, LACTIC ACIDOSIS, FATAL INFANTILE, 9
SUCLG1
mtDNA DEPLETION, MYOPATHIC FORM
TK2
MUCOLIPIDOSIS II ALPHA/BETA
GNPTAB
MUCOLIPIDOSIS III ALPHA/BETA
GNPTAB
MUCOLIPIDOSIS IV
MCOLN1
MUCOPOLYSACCHARIDOSIS TYPE 3A (Sanfilippo type A)
SGSH
MUCOPOLYSACCHARIDOSIS TYPE 7, SLY SYNDROME
GUSB
MUCOPOLYSACCHARIDOSIS TYPE II
IDS
MUCOPOLYSACCHARIDOSIS TYPE IIIC (Sanfilippo type c)
HGSNAT
MUCOPOLYSACCHARIDOSIS TYPE VI MAROTEAUX-LAMY
ARSB
MULIBREY NANISM
TRIM37
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY
ETFA
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
CHRNG
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
CHRNA1
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
CHRND
MUSCLE-EYE-BRAIN DISEASE
FKRP
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A
LAMA2
MUSCULAR DYSTROPHY, CONGENITAL, 1C
FKRP
MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
LARGE
MUSCULAR DYSTROPHY, DUCHENNE TYPE
DMD
MYD88 DEFICIENCY
MYD88D
MYOCLONIC EPILEPSY OF LAFORA
EPM2A
MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
CSTB
MYOTUBULAR MYOPATHY 1
MTM1
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