Genetic Conditions tested at Virtus Diagnostics

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Disease
Code
Fur Further Information
SANDHOFF DISEASE
HEXB
SCHNECKENBECKEN DYSPLASIA
SLC35D1
SCID W MICROCEPHALY, GROWTH RETARDATION, & SENS TO IONIZING RADIATION
NHEJ1
SCID, AUT REC, T CELL-NEGATIVE, B CELL+, NK CELL+
CD3D
SECKEL SYNDROME 1
ATR
SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
TH
SENIOR-LOKEN SYNDROME 1
NPHP1
SENIOR-LOKEN SYNDROME 5
IQCB1
SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
LIG4
SEVERE COMBINED IMMUNODEFICIENCY,
ADA
SEVERE COMBINED IMMUNODEFICIENCY, AUT REC, T CELLø, B CELL+, NK CELLø
JAK3
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE
RAG1
SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
IL2RG
SHWACHMAN-DIAMOND SYNDROME
SBDS
SIALURIA, FINNISH TYPE
SLC17A5
SICKLE CELL ANEMIA
HBB
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
GPC3
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2
OFD1
SJOGREN-LARSSON SYNDROME
ALDH3A2
SKIN FRAGILITY-WOOLLY HAIR SYNDROME
DSP
SMITH-LEMLI-OPITZ SYNDROME
DHCR7
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SACS
SPASTIC PARAPLEGIA 2, X-LINKED
PLP1
SPINAL MUSCULAR ATROPHY TYPE I
SMN1
SPINAL MUSCULAR ATROPHY TYPE II
SMN1
SPINAL MUSCULAR ATROPHY TYPE III
SMN1
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1
IGHMBP2
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
PLEKHG5
SPINAL MUSCULAR ATROPHY, X-LINKED 2
UBA1
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1
WNT7A
STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME
SHROOM4
STRIATONIGRAL DEGENERATION, INFANTILE
NUP62
STUVE-WIEDEMANN SYNDROME
LIFR
SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
ALDH5A1
SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME
TSPYL1
SULFOCYSTEINURIA
SUOX
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1
SFTPB
SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
ABCA3