Microarray and karyotype

100	Rapid microarray (CGH and SNP)
200	Standard karyotype
210	5-cell karyotype + microarray bundle

Familial Studies

230	5-cell karyotype (parent or family member of proband)
330	Locus-specific FISH (parent or family member of proband)
900	Parental testing (general)

Molecular testing is offered through our partner laboratories at this time. Tests listed represent a selection of commonly ordered tests that complement the cytogenetics/molecular cytogenetics test menu. Extensive testing options including whole exome sequencing, single gene sequencing, smaller disease-specific tests/panels, and uniparental disomy are also available. Please inquire at 844-ALLELE2 (255-3532) if the testing you desire is not listed specifically on this test menu.

Exome/Single Gene Testing

8215	Clinical exome NGS panel
8560	Known mutation evaluation
8830	Single gene sequencing
8835	Single gene sequencing and deletion/duplication analysis

Phenotype-Based Panels: Cardiovascular

8075	Arrhythmogenic right ventricular cardiomyopathy NGS panel
8150	Cardiomyopathy NGS panel
8300	Dilated cardiomyopathy NGS panel
8420	Heterotaxy & situs inversus NGS panel
8475	Hypertrophic cardiomyopathy NGS panel

Phenotype-Based Panels: Neurology/Neuromuscular

8230	Congenital hypotonia panel
8235	Congenital myasthenic syndromes NGS panel
8365	Epilepsy NGS panel
8705	Neurology NGS panel
8715	Neuromuscular disorders NGS panel

Phenotype-Based Panels: Skeletal findings/Short stature

8330	Disproportionate short stature NGS panel
8685	Multiple epiphyseal dysplasia NGS panel
8760	Proportionate short stature/small for gestational age panel
8855	Skeletal dysplasia NGS panel

Phenotype-Based Panels: Structural malformations

8060	Anterior segment dysgenesis eye NGS panel
8135	Brain malformations NGS panel
8165	Cerebellar/Pontocerebellar hypoplasia NGS panel
8170	Cerebral cavernous malformations NGS panel
8450	Holoprosencephaly NGS panel
8580	Limb malformation NGS panel
8590	Lissencephaly NGS panel
8645	Macrocephaly NGS panel
8670	Microcephaly NGS panel

Phenotype-Based Panels: Other

8025	Albinism NGS panel
8090	Autism spectrum panel: Sequencing panel + optional AFF2 & FMR1 analysis
8190	Cholestasis NGS panel
8200	Ciliopathies NGS panel
8250	Connective tissue disorders NGS panel
8320	Disorders of sexual development NGS panel
8395	Hearing loss NGS panel
8510	Intellectual disability NGS panel
8630	Lung disorders NGS panel
8930	X-linked intellectual disabilities panel: Sequencing panel + optional AFF2 & FMR1 analysis

Syndrome-Based Testing

8015	ADULT syndrome NGS panel
8035	Alport syndrome NGS panel
8050	Angelman/Rett syndromes NGS panel
8105	Bardet-Biedl syndrome NGS panel
8115	Beckwith-Wiedemann syndrome
8160	Central hypoventilation syndrome NGS panel
8260	Cornelia de Lange syndrome NGS panel
8290	Diamond-Blackfan anemia NGS panel
8380	Fragile X: CGG repeat anaysis
8410	Hereditary multiple exostoses NGS panel
8435	Hirschsprung disease NGS panel
8465	Hyper IgE syndromes NGS panel
8530	Joubert & Meckel syndromes NGS panel
8545	Kabuki syndrome NGS panel
8655	Maturity onset diabetes of the young (MODY)/Neonatal diabetes NGS panel
8735	Noonan syndrome & related disorders NGS panel
8750	Prader-Willi/Angelman syndrome methylation testing
8780	Rubinstein-Taybi syndrome NGS panel
8790	Russell-Silver syndrome
8810	Septo-optic dysplasia NGS panel
8890	Tuberous sclerosis NGS panel

910	Secondary specimen as requested by Allele Diagnostics
920	Other testing (specify below)
950	Stabilize specimen & hold

Microarray and karyotype

110	High-Resolution rapid microarray (CGH and SNP)
111	Targeted rapid microarray with backbone (CGH and SNP)
201	Standard karyotype

Other Studies

7025	AFP with reflex to AChE
7500	Maternal cell contamination studies
7775A	TORCH testing by PCR

Familial Studies

230	5-cell karyotype (parent or family member of proband)
330	Locus-specific FISH (parent or family member of proband)
900	Parental testing (general)