Surfactant Dysfunction Genetic Testing - Clinician

Surfactant Dysfunction

Genetic disorders of surfactant dysfunction are lung disorders that can cause breathing problems that vary widely in severity. Often times, these concerns can impact infants immediately after birth; they can benefit from a quick and accurate diagnosis to help direct clinical care.

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Quick Reference

Test Code	8100
Turnaround Time (TAT)	5-14 days
Number of Genes	3

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Mutation Detection Rate

Clinical sensitivity for these genes is not well defined. Ambry's surfactant dysfunction testing can detect >99.9% of described mutations in the included genes, when present (analytic sensitivity).

Test Description

Full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for each exon, plus at least 5 bases into the 5’ and 3’ ends of all the introns.

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Quick Reference

Test Code	8100
Turnaround Time (TAT)	5-14 days
Number of Genes	3

Ordering Options

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View Specimen Requirements

HGVS	HUGO Gene Name	Disease
m.583G>A	MT-TF	MELAS / MM & EXIT
m.1494C>T	MT-RNR1	DEAF
m.1555A>G	MT-RNR1	DEAF
m.1606G>A	MT-TV	AMDF
m.1644G>A	MT-TV	HCM+MELAS
m.3243A>G	MT-TL1	MELAS / LS/DMDF / MIDD / SNHL / FSGS / CPEO
m.3251A>G	MT-TL1	MELAS
m.3252A>G	MT-TL1	MELAS
m.3256C>T	MT-TL1	MELAS
m.3260A>G	MT-TL1	MMC
m.3271T>C	MT-TL1	MELAS
m.3291T>C	MT-TL1	MELAS / Myopathy / Deafness+Cognitive Impairment
m.3302A>G	MT-TL1	MM
m.3303C>T	MT-TL1	MMC
m.3460G>A	MT-ND1	LHON
m.3635G>A	MT-ND1	LHON
m.3697G>A	MT-ND1	MELAS/LS/LDYT
m.3700G>A	MT-ND1	LHON
m.3733G>A	MT-ND1	LHON
m.3890G>A	MT-ND1	Progressive encephalomyopathy / LS / optic atrophy
m.4171C>A	MT-ND1	LHON
m.4269A>G	MT-TI	FICP
m.4274T>C	MT-TI	CPEO/Motor Neuron Disease
m.4298G>A	MT-TI	CPEO / MS
m.4300A>G	MT-TI	MICM
m.4308G>A	MT-TI	CPEO
m.4332G>A	MT-TQ	Encephalopathy / MELAS
m.5537_5538insT	MT-TW	Leigh Syndrome
m.5650G>A	MT-TA	Myopathy
m.5703G>A	MT-TN	CPEO/MM
m.7222A>G	MT-CO1	peripheral neuropathy, muscle weakness, ptosis, abnormal muscle pathology
m.7445A>G	MT-TS1	SNHL
m.7471dupC	MT-TS1	PEM/AMDF/Motor neuron disease-like
m.7497G>A	MT-TS1	MM / EXIT
m.7511T>C	MT-TS1	SNHL
m.8344A>G	MT-TK	MERRF
m.8356T>C	MT-TK	MERRF
m.8363G>A	MT-TK	MICM+DEAF/ MERRF/ Autism/ LS/ Ataxia+Lipomas
m.8969G>A	MT-ATP6	Mitochondrial Myopathy, Lactic Acidosis,
m.8993T>C	MT-ATP6	NARP/Leigh Disease/MILS/other
m.8993T>G	MT-ATP6	NARP/Leigh Disease/MILS/other
m.9176T>C	MT-ATP6	FBSN/Leigh Disease
m.9176T>G	MT-ATP6	Leigh Disease/Spastic Paraplegia
m.9185T>C	MT-ATP6	Leigh Disease/Ataxia/NARP-like disease
m.10010T>C	MT-TG	PEM
m.10158T>C	MT-ND3	Leigh Disease
m.10191 T>C	MT-ND3	Leigh Disease/Leigh-like Disease/ESOC
m.10197G>A	MT-ND3	Leigh Disease/Dystonia/Stroke/LDYT
m.10663T>C	MT-ND4L	LHON
m.11777C>A	MT-ND4	Leigh Disease
m.11778G>A	MT-ND4	LHON, Progressive Dystonia
m.12147G>A	MT-TH	MERRF-MELAS/Enchephalopathy
m.12258C>A	MT-TS2	DMDF / RP+SNHL
m.12315G>A	MT-TL2	CPEO/KSS
m.12320A>G	MT-TL2	Myopatrhy
m.12706T>C	MT-ND5	Leigh Disease
m.13513G>A	MT-ND5	Leigh Disease/MELAS/LHON-MELAS Overlap Syndrome
m.13514A>G	MT-ND5	Leigh Disease/MELAS
m.14459G>A	MT-ND6	LDYT/Leigh Disease
m.14482C>G	MT-ND6	LHON
m.14484T>C	MT-ND6	LHON
m.14487T>C	MT-ND6	Dystonia/Leigh Disease/Ataxia
m.14495A>G	MT-ND6	LHON
m.14568C<T	MT-ND6	LHON
m.14674T>C	MT-TE	Reversible COX deficiency myopathy
m.14709T>C	MT-TE	MM+DMDF / Encephalomyopathy
m.14849T>C	MT-CYB	EXIT / Septo-Optic Dysplasia
m.15579A>G	MT-CYB	Multisystem Disorder, EXIT

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