Download postnatal testing services including gene lists

UNMC Human Genetics Laboratory where excellence is dominant | Munroe-Meyer Institute | Omaha, Nebraska | 402-559-5070 | unmc.edu/geneticslab
Postnatal Testing Services
Adult and Pediatric Constitutional Diagnoses
v16.1
CHROMOSOME ANALYSIS
• For detection of numerical and structural chromosomal aberrations
FLUORESCENCE IN SITU HYBRIDIZATION (FISH)
• Targeted FISH probes for multiple genetic diagnoses including
microdeletion/microduplication syndromes
INDICATION-SPECIFIC GENE PANELS
Includes Next Generation Sequencing and/or Deletion/Duplication Analysis
• Cardiomyopathy
• Connective Tissue Disorders
• Marfan, Loeys-Dietz, Thoracic Aortic Aneurysmal
Dissections [TAAD], Ehlers-Danlos (EDS), Stickler,
Cutis Laxa, Marfan-like and related disorders
• Autism | Intellectual Disability |
Multiple Anomalies
TESTING STRATEGIES
We are dedicated to helping
clinicians implement the most
efficient testing strategy for
each patient.
• Craniosynostosis
GENERAL
• Noonan Syndrome |
RASopathy Disorders
METHYLATION ANALYSIS
Different genetic conditions can
present similarly and can have
various underlying causes. Therefore,
more than one genetic test is
often necessary to determine the
underlying genetic cause of a
patient’s clinical features.
MICROARRAY ANALYSIS
TARGETED
• Cutis Laxa
• Duchenne/Becker Muscular Dystrophy
• Osteogenesis Imperfecta (OI)
• Ehlers-Danlos Syndrome (EDS)
• Rett | Atypical Rett | Angelman |
Angelman-like Syndromes
• Stickler Syndrome
• Available for Chromosomes 14 and 15
• High Density whole genome single nucleotide polymorphism (SNP) array
for the detection of copy number variants and regions of homozygosity
TARGETED GENE ANALYSIS
• Sequencing and/or Deletion/Duplication Analysis for any single gene included
in any of our gene panels
MALE INFERTILITY PANEL
• Chromosome Analysis and Y Chromosome Microdeletion (YCMD) Analysis
For patients with a very specific
clinical presentation, a single test may
be most appropriate. It may also be
desirable to study only one or a few
genes of interest if a familial mutation
has been previously identified.
UNMC Human Genetics Laboratory
Omaha, Nebraska | 402-559-5070
unmc.edu/geneticslab
v16.1
Gene Panels
GENE LISTS | Indication-Specific
including sequencing and deletion/duplication analysis
Autism | Intellectual Disability | Multiple Anomalies 117 genes
PANEL OVERLAP: This panel covers all genes included in other panels offered by our laboratory (listed below) as well as additional genes of clinical significance.
• Noonan Syndrome | RASopathy Disorders -and- • Rett | Atypical Rett | Angelman | Angelman-like Syndromes
AP1S2, ARID1A, ARID1B, ARL6, ARX, ASPM, ATRX, AVPR1A, BBIP1 (BBS18), BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, BDNF,
BRAF, CACNA1C, CASK, CBL, CDH8, CDKL5, CEP290 (BBS14), CHD7, CNTNAP2, CREBBP, DCX, DHCR7, DMD, EHMT1, ERCC6, ERCC8,
EZH2, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, GABRB3, GLI3, GPC3, HDAC8, HOXA1, HPRT1, HRAS, KDM5C, KMT2D (MLL2), KRAS,
L1CAM, LZTFL1 (BBS17), MAP2K1, MAP2K2, MBD5, MECP2, MED12, MEF2C, MET, MID1, MKKS (BBS6), MKS1 (BBS13), NF1, NFIX, NHS,
NIPBL, NLGN3, NLGN4X, NRAS, NRXN1, NSD1, OPHN1, PAFAH1B1 (LIS1), PCDH19, PHF6, PNKP, PQBP1, PTCH1, PTCHD1, PTEN, PTPN11,
RAB39B, RAD21, RAF1, RAI1, RELN, RPGRIP1L, RPS6KA3, SCN1A, SDCCAG8 (BBS16), SHANK2, SHANK3, SHOC2, SHROOM4, SLC2A1,
SLC6A4, SLC6A8, SLC9A6, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SPRED1, TCF4, TRAPPC9, TRIM32 (BBS11), TSC1,
TSC2, TTC8 (BBS8), TUBA1A, UBE3A, VPS13B, WDPCP (BBS15), ZEB2
Cardiomyopathy 71 genes
ABCC9, ACTC1, ACTN2, AKAP9, ANK2, ANKRD1, BAG3, CACNA1C, CACNB2, CALR3, CASQ2, CAV3, CRYAB, CSRP3, CTF1, DES, DMD, DSC2,
DSG2, DSP, DTNA, EYA4, FHL1, FHL2, FKTN, GLA, GPD1L, JPH2, JUP, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNQ1, LAMA4, LAMP2,
LDB3 (ZASP), LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOZ2, MYPN, NEXN, PKP2, PLN, PRKAG2, PSEN1*, PSEN2*, RBM20,
RYR2, SCN1B, SCN4B, SCN5A, SGCD, SNTA1, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL
*optional
Connective Tissue Disorders 50 genes
• Marfan, Loeys-Dietz, Thoracic Aortic Aneurysmal Dissections [TAAD], Ehlers-Danlos syndrome [EDS],
Stickler syndrome, Cutis Laxa, Marfan-like and related disorders)
ABCC6, ACTA2, ADAMTS2, ADAMTS10, ADAMTSL2, ALDH18A1, ATP6V0A2, ATP7A, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1,
COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, EFEMP2 (FBLN4), ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LTBP4,
MED12, MYH11, MYLK, NOTCH1, PKD2, PLOD1, PRDM5, PRKG1, PYCR1, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TGFB2,
TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
Craniosynostosis 26 genes
ASXL1, CDC45, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT43, IFT122, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, RUNX2,
SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1
Cutis Laxa 7 genes
PANEL OVERLAP: These genes are also included in the Connective Tissue Disorders panel.
ALDH18A1, ATP6V0A2, EFEMP2, ELN, FBLN5, LTBP4, PYCR1
Duchenne/Becker Muscular Dystrophy DMD gene
PANEL OVERLAP: This gene is also included in the Autism | Intellectual Disability | Multiple Anomalies and Cardiomyopathy panels.
Ehlers-Danlos Syndrome 13 genes
PANEL OVERLAP: These genes are also included in the Connective Tissue Disorders panel.
ADAMTS2, ATP7A, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13, TNXB
Noonan Syndrome | RASopathy Disorders 11 genes
PANEL OVERLAP: These genes are also included in the Autism | Intellectual Disability | Multiple Anomalies panel.
BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, SHOC2, SOS1
Osteogenesis Imperfecta 27 genes
ALPL, BMP1, CASR, COL1A1, COL1A2, CREB3L1, CRTAP, DMP1, ENPP1, FGF23, FKBP10, IFITM5, LRP5, P3H1 (LEPRE1), P4HB, PHEX, PLOD2,
PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SLC34A3, SPARC, SP7, TMEM38B, WNT1
Rett | Atypical Rett | Angelman | Angelman-like Syndromes 16 genes
PANEL OVERLAP: These genes are also included in the Autism | Intellectual Disability | Multiple Anomalies panel.
ARX, ATRX, CDKL5, CNTNAP2, EHMT1, FOXG1, MBD5, MECP2, MEF2C, NRXN1, PCDH19, PNKP, SLC9A6, TCF4, UBE3A, ZEB2
Stickler Syndrome 6 genes
PANEL OVERLAP: These genes are also included in the Connective Tissue Disorders panel.
COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2